論文 - 長谷川　奉延

DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives

Shimura K., Ichihashi Y., Nakano S., Sato T., Hamajima T., Numasawa K., Narumi S., Hasegawa T., Ishii T.

Hormone Research in Paediatrics 98 （ 2 ） 206 - 213 2025年04月

ISSN  16632818

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Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/ PGD and heterozygous missense variants of DHX37. Methods: We enrolled 11 Japanese 46,XY individuals (from 10 families) with TRS/PGD who exhibited undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or anti- Müllerian hormone levels. The subjects underwent targeted sequencing of 36 known causative genes for DSD, PCR-based Sanger sequencing of DHX37, or whole-exome sequencing. Results: Previously described pathogenic variants or novel nonsense variants (SRY, NR5A1, and DMRT1) were observed in four out of 10 families. Additionally, we identified two heterozygous rare variants of DHX37 in four families: a previously reported pathogenic variant (c.923G>A, p.Arg308Gln) in three and a novel likely pathogenic variant (c.1882A>C, p.Thr628Pro) in one. The external genitalia of patients with the DHX37 variants varied from female-type to male-type without micropenis. Eighty percent of Japanese patients with TRS/PGD had monogenic disorders including DHX37 variant being the most commonly identified (40%). The external or internal genital phenotype of TRS/PGD overlaps between DHX37 variant carriers and others. Conclusions: DHX37 variant is one of the common genetic causes in Japanese patients with TRS/PGD without Müllerian derivatives. Genetic test is helpful in detecting DHX37- related TRS/PGD because of the phenotypic diversity of the external genitalia in this disorder.

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Reference Values of Arm Span and Arm Span to Height Ratio of Japanese Population in Childhood and Adolescence: Comparison With Dutch and Turkish Population

Hirano Y., Inokuchi M., Narumi S., Hasegawa T.

American Journal of Human Biology 37 （ 4 ）  2025年04月

ISSN  10420533

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Objectives: To establish age-specific reference values for the arm span and arm span/height ratio of the Japanese population in children and adolescence and elucidate their characteristics compared with those of other populations. Study Design: We analyzed data from a national survey on the body sizes of Japanese people conducted between 1992 and 1994 by the Research Institute of Human Engineering for Quality Life. This study was an observational cross-sectional study, including 6089 boys and 4970 girls aged between 5.5 and 18.5 years. We constructed the reference values and delineated the reference curves for the arm span and arm span/height ratio of the Japanese population in childhood and adolescence using the LMS method. The references were compared with those of the Dutch and Turkish populations using the reference curve of 0 standard deviation. Results: The arm span of the Japanese population increased throughout childhood, with a particularly large increase at the age of puberty. The arm span/height ratio also increased slowly throughout childhood. The Japanese population had a smaller arm span/height ratio than the Dutch and Turkish populations of all ages in childhood and adolescence. Moreover, the arm span/height ratio of the Japanese population reached a constant value at an earlier age than in the Dutch and Turkish populations. Conclusions: We constructed the first reference values for the arm span of Japanese children and adolescents. The Japanese population has shorter arm lengths in relation to their height, and their arm span/height ratio reaches a constant value at an earlier age, compared with the Dutch and Turkish populations.

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Sex education to an adolescent male with Down syndrome in a single-mother family in Japan

Saito A., Sato T., Shima H., Yamagishi H., Narumi S., Ishii T., Hasegawa T.

Pediatrics International 67 （ 1 ）  2025年01月

ISSN  13288067

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Recovery from Atrophic Autoimmune Thyroiditis in a Child: Thyroid Stimulation-Blocking Antibody as a Prognostic Marker

Kusano C., Hori N., Hasegawa T., Narumi S.

Hormone Research in Paediatrics 2025年

ISSN  16632818

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Introduction: Atrophic autoimmune thyroiditis (AAT) is a form of autoimmune hypothyroidism characterized by the absence of a goiter. Thyroid stimulation-blocking antibody (TSBAb) has been detected in a subset of pediatric AAT cases. Although the disappearance of TSBAb has been related with the recovery of thyroid function in adult AAT cases, similar outcomes have not been documented in pediatric cases. Case Presentation: A 2-year-old Japanese boy presented for evaluation of stunted growth from1 year 10 months of age. Tests for congenital hypothyroidism were negative on newborn screening, and he had no significant medical history. However, he showed symptoms of hypothyroidism (inactiveness, hair loss, dry skin), and primary hypothyroidism was confirmed by blood test (serum TSH level, 818 mU/L; serum free T4 level, <0.40 ng/ dL). The patient exhibited a unique antibody profile: positive for TSH receptor antibody (TRAb) and TSBAb and negative for anti-thyroglobulin antibody (TgAb) and antiperoxidase antibody (TPOAb). He was treated with levothyroxine, after which his growth was normalized. During the 8-year follow-up, the patient's TSBAb levels decreased, allowing for the discontinuation of levothyroxine therapy. Conclusion: We reported the case of a 2-year-old boy diagnosed with AAT who presented with a characteristic antibody profile, negative for TgAb and TPOAb, but positive for TRAb and TSBAb. During 8 years of follow-up, TSBAb seroconversion to negative was observed, leading to treatment discontinuation at age 10 years. This case suggests that monitoring of TSBAb after a diagnosis of AAT may be used to determine treatment discontinuation even in children.

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Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor

Shimura K., Ichihashi Y., Abe K., Ishii T., Hasegawa T., Narumi S.

Hormone Research in Paediatrics 2025年

ISSN  16632818

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Introduction: Non-autoimmune hyperthyroidism (NAH) is a rare genetic disorder caused by germline-activating variants in the TSH receptor (TSHR) gene. While most NAH-related TSHR variants are located in the seven-transmembrane domain (7TMD), three variants (p.Leu267Phe, p.Ser281Asn, and p.Asn406Ser) have been identified in the extracellular domain (ECD), with p.Leu267Phe previously not showing constitutively active in vitro. Methods: We searched for TSHR variants in a Japanese family with NAH using PCR-based direct sequencing. We created three ECD variants (p.Leu267Phe, p.Ser281Asn, and p.Asn406Ser) and a series of variants in which Leu267 was mutated to 18 amino acids other than Leu and Phe. Based on the cryo-electron microscopic structures, we evaluated the structure-function relationship of TSHR. We compared their cAMP-producing capacities to WT-TSHR in the luciferase activity assay using HEK293 cells. Western blot and fluorescence immunostaining were performed using HA-tagged TSHR vectors to compare Leu267Phe-TSHR with WT-TSHR. Results: A heterozygous TSHR variant (p.Leu267Phe) was identified. Comparison of the cryo-electron microscopy structures of the activated and inactivated TSHRs revealed a significant change in the ECD structure around Leu267. The ligand-independent cAMP-producing capacities compared to WT-TSHR were 238 ± 20% (mean ± SEM) for Leu267Phe. Of all 19 possible variants created through systematic mutagenesis, only Leu267Phe-TSHR and Leu267Tyr-TSHR exhibited significantly higher ligand-independent cAMP-producing capacities. Immunoblotting and fluorescence immunostaining showed that the Leu267Phe variant did not affect protein expression levels and intracellular localization of TSHR. Discussion/Conclusion: Leu267Phe-TSHR causes NAH. Substituting Leu267 to aromatic amino acids may shift the equilibrium of the TSHR state toward activation.

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A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years

Shimura K., Toki M., Tsujioka Y., Nishimura G., Ishii T., Hasegawa T.

American Journal of Medical Genetics, Part A 2025年

ISSN  15524825

　概要を見る

Premature aging syndrome, Penttinen type (Penttinen syndrome) is a progeroid syndrome with facial alterations (thin hair and progressive recession of the maxillozygomatic bones with pseudoprognathism), skin abnormalities (scleroderma with epidermal and dermal atrophy, lipoatrophy, chronic ulcers, and keloid-like hypertrophic lesions), corneal changes (vascularization and opacity), cerebral vascular anomalies, and acroosteolysis. This syndrome is caused by heterozygous, gain-of-function pathogenic variants in the PDGFRB gene. Only 10 affected individuals have been reported to date, and thus the phenotypic spectrum of the disorder, particularly in early childhood, remains elusive. We reported here the clinical course of an affected male from early childhood to young adulthood. Thin limbs and short fingers attracted medical attention at age 3 years, at which time he had already developed maxillary hypoplasia, keloids, and acroosteolysis, all of which progressively worsened with age. Joint contractures and scoliosis became apparent during adolescence. Progressive maxillary recession and scleroderma remarkably altered his facial gestalt over time, including the development of exophthalmos, small auricles, short philtrum, and small mouth. Sanger sequencing identified a recurrent, de novo pathogenic variant in the PDGFRB gene (c.1994T > C, p.Val665Ala). This report on the clinical course through childhood provides additional insight into the natural history of Penttinen syndrome.

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Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR

Sato T., Narumi S., Sakuma T., Shimura K., Ichihashi Y., Yamamoto T., Ishii T., Hasegawa T.

Journal of Molecular Endocrinology 73 （ 4 ）  2024年11月

ISSN  09525041

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Genetic variants involving steroidogenic acute regulatory protein cause lipoid congenital adrenal hyperplasia, which is characterized by impaired steroidogenesis in the adrenal glands and gonads. Functional assessment of variant STAR proteins is necessary for an accurate genetic diagnosis. Ideally, steroidogenic cells should be used to assess the functionality of STAR proteins, but the presence of endogenous STARs in steroidogenic cells precludes such a method. Here, we generated Star-edited cells from steroidogenic Y1 mouse adrenocortical tumor cells by genome editing. Star-edited Y1 cells exhibited very low but measurable cAMP-dependent pregnenolone production. Furthermore, stimulation of the cAMP pathway for 2 weeks resulted in the formation of lipid droplets in the cytoplasm of Star-edited Y1 cells, which resembled the histology of the adrenal glands of patients with lipoid congenital adrenal hyperplasia. The steroidogenic defect of Star-edited Y1 cells can be restored by transient overexpression of mouse Star. We found that human STAR can also restore defective steroidogenesis in Star-edited Y1 cells, and we were able to construct a novel in vitro system to evaluate human STAR variants. Collectively, we established Star-edited Y1 cells that retain the steroidogenic pathway downstream of the Star protein. Star-edited Y1 cells recapitulate the functional and morphological changes of lipoid congenital adrenal hyperplasia and can be used to evaluate the functionality of human STAR variants.

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Znrf3 exon 2 deletion mice do not recapitulate congenital adrenal hypoplasia

Uchida N., Ishii T., Amano N., Takada S., Kobayashi K., Murakami T., Narumi S., Hasegawa T.

Journal of Molecular Endocrinology 73 （ 4 ）  2024年11月

ISSN  09525041

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Wnt/β-catenin signaling is essential for adrenocortical development. Zinc and ring finger 3 (ZNRF3), an E3 ubiquitin ligase that attenuates Wnt/β-catenin signaling, is negatively regulated by R-spondin via an extracellular domain that is partially encoded by exon 2 of ZNRF3. We recently identified ZNRF3 exon 2 deletions in three individuals with congenital adrenal hypoplasia. ZNRF3 exon 2 deletion impairs R-spondin binding, thereby attenuating β-catenin expression and eventually leading to the development of congenital adrenal hypoplasia. To elucidate the influence of ZNRF3/Znrf3 exon 2 deletion on adrenocortical development, we generated homozygous Znrf3 exon 2 deletion (Znrf3Δ2/Δ2) mice. Whereas the adrenal glands of Znrf3Δ2/Δ2 mice did not show gross morphological changes at birth, moderate hyperplasia of the zona fasciculata (ZF), dispersed medulla arrangement, and a radially spreading zone with macrophage infiltration between the ZF and medulla were observed at 6 weeks of age. 20α-hydroxysteroid dehydrogenase, a marker of the adrenal X-zone, was hardly detected by immunostaining, and gene expression was significantly downregulated. The number of activated β-catenin-positive cells decreased in the zona glomerulosa, consistent with the results of in situ hybridization for Axin2, a Wnt/β-catenin target gene. Plasma ACTH and serum corticosterone levels in Znrf3Δ2/Δ2 mice did not differ significantly from those in wild-type mice. These results show a species-specific difference in the effects of ZNRF3/Znrf3 exon 2 deletions in humans and mice; Znrf3Δ2/Δ2 mice do not develop congenital adrenal hypoplasia but instead exhibit moderate ZF hyperplasia, dispersed medulla arrangement, X-zone dysplasia, and macrophage infiltration occurred in the inner cortex.

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A Pitfall of Adrenal Hypoplasia Congenita

Abe J., Tsubaki J., Shimura K., Hasegawa T.

Clinical Pediatrics 63 （ 9 ） 1318 - 1320 2024年10月

ISSN  00099228

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Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects

Tanase-Nakao K., Iwahashi-Odano M., Sugisawa C., Abe K., Muroya K., Yamamoto Y., Kawada Y., Mushimoto Y., Ohkubo K., Kinjo S., Shimura K., Aoyama K., Mizuno H., Hotsubo T., Takahashi C., Isojima T., Kina Y., Takakuwa S., Hamada J., Sawaki M., Shigehara K., Sugimoto S., Etani Y., Narumi-Wakayama H., Mine Y., Hasegawa T., Hishinuma A., Narumi S.

Journal of Clinical Endocrinology and Metabolism 109 （ 9 ） 2358 - 2365 2024年09月

ISSN  0021972X

　概要を見る

Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS). Objective: We aimed to clarify the phenotypic features of patients with TG defects diagnosed and treated since the neonatal period. Methods: We screened 1061 patients with CH for 13 CH-related genes and identified 30 patients with TG defects. One patient was diagnosed due to hypothyroidism-related symptoms and the rest were diagnosed via NBS. Patients were divided into 2 groups according to their genotypes, and clinical characteristics were compared. We evaluated the functionality of the 7 missense variants using HEK293 cells. Results: Twenty-seven rare TG variants were detected, including 15 nonsense, 3 frameshift, 2 splice-site, and 7 missense variants. Patients were divided into 2 groups: 13 patients with biallelic truncating variants and 17 patients with monoallelic/biallelic missense variants. Patients with missense variants were more likely to develop thyroid enlargement with thyrotropin stimulation than patients with biallelic truncating variants. Patients with biallelic truncating variants invariably required full hormone replacement, whereas patients with missense variants required variable doses of levothyroxine. Loss of function of the 7 missense variants was confirmed in vitro. Conclusion: To our knowledge, this is the largest investigation on the clinical presentation of TG defects diagnosed in the neonatal period. Patients with missense variants showed relatively mild hypothyroidism with compensative goiter. Patients with only truncating variants showed minimal or no compensative goiter and required full hormone replacement.

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Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study

Hosokawa M., Ichihashi Y., Sato Y., Shibata N., Nagasaki K., Ikegawa K., Hasegawa Y., Hamajima T., Nagamatsu F., Suzuki S., Numakura C., Amano N., Sasaki G., Nagahara K., Soneda S., Ariyasu D., Maeda M., Kamasaki H., Aso K., Hasegawa T., Ishii T.

Journal of Clinical Endocrinology and Metabolism 109 （ 8 ） e1602 - e1607 2024年08月

ISSN  0021972X

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Context: Adrenal crisis (AC) is a life-threatening complication that occurs during follow-up of patients with adrenal insufficiency (AI). No prospective study has thoroughly investigated AC in children with primary and secondary AI. Objective: This work aimed to determine the incidence and risk factors for AC in patients with pediatric-onset AI. Methods: This multicenter, prospective cohort study conducted in Japan enrolled patients diagnosed with AI at age ≤15 years. The incidence of AC was calculated as events per person-year (PY), and risk factors for AC were assessed using Poisson regression multivariable analysis. Results: The study population comprised 349 patients (164 male, 185 female) with a total follow-up of 961 PY. The median age at enrollment was 14.3 years (interquartile range [IQR] 8.5-21.2 years), and the median follow-up was 2.8 years (IQR 2.2-3.3 years). Of these patients, 213 (61%) had primary AI and 136 (39%) had secondary AI. Forty-one AC events occurred in 31 patients during the study period. The calculated incidence of AC was 4.27 per 100 PY (95% CI, 3.15-5.75). Poisson regression analysis identified younger age at enrollment (relative risk [RR] 0.93; 95% CI, 0.89-0.97) and increased number of infections (RR 1.17; 95% CI, 1.07-1.27) as significant risk factors. Female sex (RR 0.99; 95% CI, 0.53-1.86), primary AI (RR 0.65; 95% CI, 0.30-1.41), or equivalent dosage of hydrocortisone per square meter of body area (RR 1.02; 95% CI, 0.96-1.08) was not a significant risk factor. Conclusion: A substantial proportion of patients with pediatric-onset AI experience AC. Younger age and an increased number of infections are independent risk factors for developing AC in these patients.

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Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

Narumi S., Nagasaki K., Kiriya M., Uehara E., Akiba K., Tanase-Nakao K., Shimura K., Abe K., Sugisawa C., Ishii T., Miyako K., Hasegawa Y., Maruo Y., Muroya K., Watanabe N., Nishihara E., Ito Y., Kogai T., Kameyama K., Nakabayashi K., Hata K., Fukami M., Shima H., Kikuchi A., Takayama J., Tamiya G., Hasegawa T.

Nature Genetics 56 （ 5 ） 869 - 876 2024年05月

ISSN  10614036

　概要を見る

Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.1. Follow-up analyses with whole-genome sequencing and genetic screening in congenital hypothyroidism and MNG cohorts showed that changes in a noncoding TTTG microsatellite on 15q26.1 were frequently observed in congenital hypothyroidism (137 in 989) and MNG (3 in 33) compared with controls (3 in 38,722). Characterization of the noncoding variants with epigenomic data and in vitro experiments suggested that the microsatellite is located in a thyroid-specific transcriptional repressor, and its activity is disrupted by the variants. Collectively, we presented genetic evidence linking nongoitrous congenital hypothyroidism and MNG, providing unique insights into thyroid abnormalities.

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Development of sexual dimorphism of skeletal muscles through the adrenal cortex, caused by androgen-induced global gene suppression

Takahashi F., Baba T., Christianto A., Yanai S., Lee-Okada H.C., Ishiwata K., Nakabayashi K., Hata K., Ishii T., Hasegawa T., Yokomizo T., Choi M.H., Morohashi K.i.

Cell Reports 43 （ 2 ）  2024年02月

　概要を見る

The zona fasciculata (zF) in the adrenal cortex contributes to multiple physiological actions through glucocorticoid synthesis. The size, proliferation, and glucocorticoid synthesis characteristics are all female biased, and sexual dimorphism is established by androgen. In this study, transcriptomes were obtained to unveil the sex differentiation mechanism. Interestingly, both the amount of mRNA and the expressions of nearly all genes were higher in females. The expression of Nr5a1, which is essential for steroidogenic cell differentiation, was also female biased. Whole-genome studies demonstrated that NR5A1 regulates nearly all gene expression directly or indirectly. This suggests that androgen-induced global gene suppression is potentially mediated by NR5A1. Using Nr5a1 heterozygous mice, whose adrenal cortex is smaller than the wild type, we demonstrated that the size of skeletal muscles is possibly regulated by glucocorticoid synthesized by zF. Taken together, considering the ubiquitous presence of glucocorticoid receptors, our findings provide a pathway for sex differentiation through glucocorticoid synthesis.

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Usefulness of a mobile airwayscope with a monitor in examination of the external genitalia of a 483 g female neonate

Hiraizumi T., Sato T., Kobayashi H., Arimitsu T., Narumi S., Ishii T., Hasegawa T.

Pediatrics International 66 （ 1 ）  2024年01月

ISSN  13288067

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Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review

Ota M., Sato T., Nakano S., Yamazaki F., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 33 （ 3 ） 157 - 162 2024年

ISSN  09185739

　概要を見る

Hypothalamic-pituitary Langerhans cell histiocytosis (HP-LCH) is often associated with arginine vasopressin deficiency (AVD). Patients with AVD caused by HP-LCH rarely develop an impaired osmotic threshold for thirst (OTT). Improvement in OTT among such patients has not been reported in the literature. To our knowledge, here we report the first case of AVD due to HP-LCH in which hypodipsia resolved during chemotherapy. A nine-year-old Japanese girl presented with polydipsia, polyuria, anorexia, and hypernatremia (149.8 mEq/L) and was diagnosed with AVD secondary to HP-LCH. Visual analog scale examination showed a reduced OTT following the water deprivation test. During chemotherapy for Langerhans cell histiocytosis (LCH), serum sodium concentrations became stable between 138.9 and 142.9 mEq/L under the replacement of desmopressin. Repeated visual analog scale examinations showed that she experienced a sense of thirst at a serum sodium concentration of 142.3–144.6 mEq/L, at which she did not experience any thirst prior to the initiation of chemotherapy. These data suggest that chemotherapy directly improved the OTT in our patient. Improved mechanical compression or infiltration of the hypothalamus related to OTT may lead to the recovery of the sense of thirst. This report highlights the potential role of chemotherapy for solitary HP-LCH in patients with hypodipsia and AVD.

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Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level

Furusawa K., Hachiya R., Shibata H., Uchida N., Sasaki G., Fukushima H., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 33 （ 1 ） 35 - 38 2024年

ISSN  09185739

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Adrenal crisis during a trip in a young child with septo-optic dysplasia

Takahashi M., Sato T., Nakano S., Hamada J., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 33 （ 2 ） 101 - 103 2024年

ISSN  09185739

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Underweight in young Japanese women over time: a longitudinal retrospective study of the change in body mass index from ages 6 to 20 years

Nagashima Y., Inokuchi M., Sato Y., Hasegawa T.

Annals of Human Biology 51 （ 1 ）  2024年

ISSN  03014460

　概要を見る

Background: The high prevalence of underweight in young women has become a serious health problem in Japan. When and how young women reach a low body mass index (BMI) has not been clarified. Aim: To clarify the characteristics of BMI standard deviation scores (BMI SDS) trajectory of young Japanese women with underweight. Subjects and methods: A total of 601 Japanese female university students aged 20 years were classified into underweight and healthy weight groups. Their school health check-up data were available from the ages of 6 to 20 years. We evaluated the estimated mean values of BMI SDS at each age and differences in BMI SDS (ΔBMI SDS) from 6 years to each age using a mixed-effects model and compared between the two groups at each age. Results: In the underweight group, the BMI SDS at every age (−1.67 to −0.91) and the ΔBMI SDS after 16 years of age (−0.76 to −0.38) were significantly lower than those in the healthy weight group (−0.41 to −0.13, −0.07 to 0.04), respectively. Conclusion: Young Japanese women with underweight have at least two characteristics of BMI SDS trajectory: being constitutionally underweight and shifting their weight status from baseline towards underweight in their late teens.

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Siblings of neonatal hyperbilirubinemia with UGT1A1 double missense variants

Kubota Y., Sato T., Matsuyama M., Maruo Y., Narumi S., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 33 （ 3 ） 195 - 198 2024年

ISSN  09185739

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Characteristic external genitalia in male neonates with 5α-reductase deficiency

Munenaga T., Ichihashi Y., Nakano S., Shibata H., Sato T., Asanuma H., Homma K., Hasegawa T., Ishii T.

Endocrine Journal 71 （ 10 ） 973 - 978 2024年

ISSN  09188959

　概要を見る

There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7–93%) and specificity of 100% (95% CI, 72–100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.

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Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: Report of three female cases from two pedigrees

Nabeshima Y., Sato T., Zukeran H., Komatsu R., Nakano S., Ichihashi Y., Tominaga T., Miwa M., Amano N., Ishii T., Hasegawa T.

Journal of Pediatric Endocrinology and Metabolism 36 （ 8 ） 786 - 790 2023年08月

ISSN  0334018X

　概要を見る

Objectives: The role of serum fibroblast growth factor 23 (FGF23) level in early neonatal period on the diagnosis of X-linked hypophosphatemic rickets (XLH) remains unclear. Case presentation: Two female patients from the first pedigree had an affected mother, and the other female from the second pedigree had an affected father. In all three cases, FGF23 levels were high in cord blood and peripheral blood at day 4-5. Additionally, the FGF23 levels considerably increased from birth to day 4-5. We identified a PHEX pathogenic variant and initiated treatment during infancy in each case. Conclusions: In neonates with a parent diagnosed as PHEX-associated XLH, FGF23 in cord blood and peripheral blood at day 4-5 may be useful markers for predicting the presence of XLH.

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Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review

Kuranari Y., Miwa T., Kono M., Shibata H., Ishii T., Hasegawa T.

Child's Nervous System 39 （ 4 ） 1065 - 1069 2023年04月

ISSN  02567040

　概要を見る

Central nervous system germ cell tumors (CNSGCTs) are rare neoplasms which usually develop in the midline structures. They are occasionally involved in off-midline structures of the brain. Here, we report an extremely rare case of an intracranial germinoma in the lateral ventricle. The patient was a 10-year-old boy with a 1-year history of polydipsia and polyuria. Brain magnetic resonance imaging (MRI) showed a relatively homogeneously enhancing lesion in the lateral ventricle, and the posterior pituitary gland was not hyperintense on T1-weighted imaging. Subependymoma was suspected, and tumor removal operation was performed; however, because the intraoperative pathological investigation revealed germinoma, we could only perform partial removal of the tumor. Postoperative histology also confirmed germinoma. Then, the patient received chemotherapy, followed by radiation therapy. MRI showed no recurrence for 6 years after treatment. Intracranial germinoma in the lateral ventricle is extremely rare. The diagnosis is occasionally challenging, especially when the tumors are located in atypical locations. This paper presents a literature review of previously described CNSGCTs of the lateral ventricle to improve awareness of CNSGCTs in atypical locations. We also consider the relationship between imaging findings and clinical manifestations.

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Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

Sato T., Inokuchi M., Nakano S., Iwabuchi Y., Hayashida T., Ishii T., Hasegawa T.

Radiology Case Reports 18 （ 1 ） 91 - 93 2023年01月

　概要を見る

A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left mammary gland. We consider that high fluorodeoxyglucose accumulation in the liver of patients with glycogen storage disease type I is caused by impaired glucose-6-phosphate metabolism due to the congenital deficiency of glucose-6-phosphatase activities in hepatocytes. This study describes fluorodeoxyglucose-positron emission tomography as a potential alternative tool to diagnose glycogen storage disease type I functionally.

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Potential benefit of rapid genetic testing for Pallister–Hall syndrome

Maeda-Usui A., Sato T., Nakano S., Kusakawa M., Kin T., Takahashi N., Motojima Y., Asanuma H., Hida M., Ishii T., Kuroda T., Hasegawa T.

Clinical Pediatric Endocrinology 32 （ 2 ） 119 - 122 2023年

ISSN  09185739

　概要を見る

Pallister–Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus. We identified a known pathogenic variant of the GLI3 gene within one week and diagnosed the infant with PHS. The parents assigned the infant as male, considering the 46,XY karyotype, normal testosterone secretion, possible male identity, and the natural history of PHS. In infants with atypical genitalia and other malformations, such as polydactyly, a hypothalamic mass, or an imperforate anus, rapid GLI3 testing may provide information for planning lifelong management, including sex assignment.

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A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY

Narita C., Takubo N., Sammori M., Matsumura Y., Shimura K., Ozaki R., Haruna H., Narumi S., Ishii T., Hasegawa T., Shimizu T.

Clinical Pediatric Endocrinology 32 （ 4 ） 235 - 238 2023年

ISSN  09185739

　概要を見る

Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (SRY), diagnosed after primary amenorrhea. A 15-yr-old patient presented to our gynecology department with a chief complaint of amenorrhea. The patient was diagnosed with a 46,XY karyotype, and SRY gene positivity. Gonadotropin levels were high, whereas testosterone levels were low. A pelvic magnetic resonance imaging (MRI) revealed a hypoplastic uterus; however, no gonads could be identified. Laparoscopy revealed bilateral streak gonads, fallopian tube-like structures, and the uterus. The gonads were removed based on the risk of gonadal malignancy. Comprehensive genetic analysis of DSD revealed a previously unreported SRY variant, c.271A>T, p.Ser91Cys, and in silico analysis predicted the variant to be pathogenic. The patient was diagnosed with 46,XY complete gonadal dysgenesis with a novel missense variant in SRY. The patient continued female hormone replacement therapy and experienced breast enlargement and cyclic menstruation. Determining the etiology of DSD can be difficult, causing anxiety in patients and their families. In addition to surgical scrutiny, genetic analysis is important to aid in diagnosis and reassure patients and their families.

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Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia

Sato T., Nakano S., Ichihashi Y., Kobayashi H., Hida M., Ishii T., Hasegawa T.

Neonatology 119 （ 6 ） 785 - 789 2022年12月

ISSN  16617800

　概要を見る

Less-invasive diagnostic approaches for low-birthweight preterm neonates with suspected differences of sex development have not been established. Herein, we describe our diagnostic approaches for a 297-g neonate with ambiguous genitalia. Using a fiberscope, the external genitalia were inspected in an incubator to minimize the risk of hypothermia and infection. Endotracheal aspirate, collected during routine care, was used for genetic testing to avoid anemia and vital signs fluctuations caused by peripheral blood sampling. Array comparative genomic hybridization indicated a 46,XY karyotype. No pathogenic variants of AR and SRD5A2 were found. Endocrinological data could not be evaluated owing to the absence of reference data. Identification and structural evaluation of the internal genitalia and gonads were difficult. On postnatal day 42, the parents assigned their baby's sex as male. Our less-invasive diagnostic approaches of inspection and genetic testing are useful for management, including sex assignment in extremely low-birthweight preterm neonates with ambiguous genitalia.

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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Narita K., Muramatsu H., Narumi S., Nakamura Y., Okuno Y., Suzuki K., Hamada M., Yamaguchi N., Suzuki A., Nishio Y., Shiraki A., Yamamori A., Tsumura Y., Sawamura F., Kawaguchi M., Wakamatsu M., Kataoka S., Kato K., Asada H., Kubota T., Muramatsu Y., Kidokoro H., Natsume J., Mizuno S., Nakata T., Inagaki H., Ishihara N., Yonekawa T., Okumura A., Ogi T., Kojima S., Kaname T., Hasegawa T., Saitoh S., Takahashi Y.

Scientific Reports 12 （ 1 ）  2022年12月

　概要を見る

Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TOKAI-IRUD). This study included only patients who had not previously received genome-wide testing. Review meetings with specialists in various medical fields were held to evaluate the genetic diagnosis in each case, which was based on the guidelines of the American College of Medical Genetics and Genomics. WES identified diagnostic single-nucleotide variants in 66 patients and copy number variants (CNVs) in 11 patients. Additionally, a patient was diagnosed with Angelman syndrome with a complex clinical phenotype upon detection of a paternally derived uniparental disomy (UPD) [upd(15)pat] wherein the patient carried a homozygous DUOX2 p.E520D variant in the UPD region. Functional analysis confirmed that this DUOX2 variant was a loss-of-function missense substitution and the primary cause of congenital hypothyroidism. A significantly higher proportion of genetic diagnoses was achieved compared to previous reports (44%, 78/177 vs. 24–35%, respectively), probably due to detailed discussions and the higher rate of CNV detection.

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Fetal growth restriction and a single umbilical artery are independent predictors of hypospadias during pregnancy

Endo T., Iida M., Ichihashi Y., Oishi M., Ikenoue S., Kasuga Y., Sato T., Hida M., Ishii T., Asanuma H., Hasegawa T., Tanaka M., Ochiai D.

Placenta 130   53 - 59 2022年12月

ISSN  01434004

　概要を見る

Introduction: Little is known about the association between hypospadias and small fetuses, as well as the pathological implications of fetal growth restriction (FGR). Thus, we aimed to investigate the association between hypospadias and small fetuses using a database of fetal ultrasound and obstetric events. Methods: A cohort of male singleton infants delivered after 22 weeks of gestation at Keio University Hospital between 2013 and 2019 was retrospectively reviewed. FGR was defined according to the Delphi criteria. Logistic regression analysis was performed to identify the significant predictors of hypospadias. Placental pathology was reviewed in cases with hypospadias. Results: Of the 2,040 male infants included in the present study, 23 had hypospadias. The prevalences of a single umbilical artery (SUA), small for gestational age, maternal hypertensive disorders of pregnancy, and a small placenta, were significantly higher in infants with hypospadias. Multiple logistic regression analysis revealed that FGR (odds ratio [OR] = 9.39; 95% confidence interval [CI], 2.50–35.3) and the presence of a SUA (OR = 33.4; 95% CI, 8.00–139.5) were independently and significantly associated with hypospadias. When FGR was stratified by the time of onset, its association with hypospadias was significant regardless of the time of onset. Moreover, placental histological findings suggested that fetal vascular malperfusion might play a role in hypospadias. Discussion: FGR and SUAs are independent prenatal predictors of the development of hypospadias, and fetal vascular malperfusion of the placenta may be involved in the etiology of hypospadias.

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A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation

Tanase-Nakao K., Muroya K., Adachi M., Abe K., Hasegawa T., Narumi S.

Clinical Pediatric Endocrinology 31 （ 4 ） 250 - 255 2022年10月

ISSN  09185739

　概要を見る

PAX8 is a transcription factor that is expressed in the thyroid gland and kidneys. Monoallelic loss-of-function PAX8 variants cause congenital hypothyroidism (CH), and urogenital malformations are infrequent complications seen in less than 10% of PAX8 variant carriers. Herein, we report the case of a 3-yr-old female patient with CH who was diagnosed during newborn screening. She was treated with levothyroxine, and she showed normal growth and development at a minimal dose (0.7 µg/kg/d of levothyroxine at 3 yr of age). At 5 mo of age, she visited an emergency department for fever and was incidentally found to have differently sized kidneys by ultrasonography, which was subsequently diagnosed as unilateral multicystic dysplastic kidney. Her serum creatinine and cystatin C levels were normal. Next-generation sequencing-based genetic analysis revealed that the patient was heterozygous for a PAX8 frameshift variant (p.Thr320ProfsTer106) and a DUOX2 missense variant (p.Arg885Gln). Our patient is the first truncating PAX8 variant carrier to have a urogenital malformation with CH. Genetic analysis for PAX8 should be considered in patients with CH and urogenital malformations.

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Impact of school closure due to the coronavirus disease 2019 pandemic on body mass index in Japanese children: Retrospective longitudinal study

Nagashima Y., Inokuchi M., Yasui Y., Uchida K., Tokumura M., Hasegawa T.

Journal of Paediatrics and Child Health 58 （ 10 ） 1841 - 1846 2022年10月

ISSN  10344810

　概要を見る

Aim: During the coronavirus disease 2019 pandemic, the governments of many countries responded to high levels of infection with lockdowns. As a result, some children were reported to experience weight gain. The aim of the present study was to examine the impact of school closures on body mass index (BMI) in Japanese children. Methods: This was a retrospective study of students enrolled in the participating schools (6- to 11-year-old elementary school students and 12- to 14-year-old junior high school students) between 2015 and 2020. Using school health check-up data, annual changes in the BMI standard deviation score (ΔBMI-SDS) were calculated. We compared ΔBMI-SDS in 2019–2020 with the corresponding control years. Results: 19 565 children with complete data were included in the analysis. Median ΔBMI-SDS in 2019–2020 were 0.24–0.35 in elementary school boys, 0.10–0.13 in junior high school boys, −0.02 to 0.15 in elementary school girls and −0.14 to −0.10 in junior high school girls. In comparison with every control year, ΔBMI-SDS in 2019–2020 were significantly higher in elementary school boys (control years: −0.07 to 0.14) and junior high school boys (control years: −0.04 to 0.06), and significantly lower in junior high school girls (control years: −0.06 to 0.09). Conclusion: BMI-SDS increased significantly in elementary and junior high school boys, but decreased significantly in junior high school girls. The pandemic appears to have had an impact on Japanese children that was different from other countries.

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High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency

Kawasaki Y., Sato T., Nakano S., Usui T., Narumi S., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 31 （ 2 ） 93 - 97 2022年04月

ISSN  09185739

　概要を見る

For salt-wasting 21-hydroxylase deficiency (21OHD), fludrocortisone (FC) is usually supplemented at 0.05–0.2 mg/d dose. To date, no report has described 21OHD neonates requiring > 0.4 mg/d of FC. Our female 21OHD patient was lethargic and experienced weight loss with hyponatremia (133 mEq/L), hyperkalemia (6.5 mEq/L), and elevated active renin concentration (ARC, 1942.2 pg/mL) at 6 days of life. Hydrocortisone and FC replacement were initiated. FC dose was gradually increased to 0.4 mg/d at 21 days of life, but her hyperkalemia (6.4 mEq/L) and high ARC (372.3 pg/mL) persisted. We increased FC to 0.6 mg/d and used a low-potassium and high-sodium formula. Hyperkalemia subsequently improved. At 33 days of life, the ARC decreased to 0.6 pg/mL and FC dosage was gradually decreased. At 3 months of age, the low-potassium and high-sodium formula was discontinued, but the serum potassium level was normal and ARC remained low at 0.1 mg/d of FC. We speculated that severe mineralocorticoid resistance was the reason why her hyperkalemia persisted even with 0.4 mg/d of FC; however, the pathophysiology of transiently severe resistance to FC in this patient is unknown. In conclusion, 21OHD neonates may show severe salt-wasting that transiently require > 0.4 mg/d of FC.

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Destructive thyroiditis without autoantibodies in an infant

Ichikawa Y., Sato T., Ichihashi Y., Ishii T., Hasegawa T.

Pediatrics International 64 （ 1 ）  2022年01月

ISSN  13288067

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Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review

Sugisawa C., Taniyama M., Sato T., Takahashi Y., Hasegawa T., Narumi S.

Endocrine Journal 69 （ 7 ） 831 - 838 2022年

ISSN  09188959

　概要を見る

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) deficiency and sexual immaturity. CHH may accompany an abnormal sense of smell (Kallmann syndrome, KS) or no such manifestation (normosmic-CHH). This unusual combination of manifestations is explained by the fact that GnRH neurons originate in the olfactory placode and migrate to the forebrain during embryogenesis. We describe the case of a 31-year-old man with normosmic-CHH, who also had obesity, type 2 diabetes and intellectual disability. He was noticed to have sexual immaturity (small testes with no pubic hair) at age 20 years, when diabetic ketoacidosis developed. Basal and GnRH-stimulated levels of LH (1.0→12.0 IU/L) and FSH (1.9→6.1 IU/L) were detectable but low. The results of the T&T olfactometer and the Alinamin test were definitely normal, with an anatomically normal olfactory system on MRI. Sequencing of 22 CHH-related genes was performed, and compound heterozygous PROKR2 variants were identified: one was a previously known loss-of-function variant (p.Trp178Ser) and the other was a nonsense variant (p.Trp212*). Through a literature review, we found 22 patients (including our patient) with CHH due to biallelic PROKR2 variants, which led us to recognize that most of the patients (86%) were diagnosed with KS. Clinical observations in this study indicate that, even though they have CHH, biallelic PROKR2 variant carriers may have a normal olfactory system as well as presumably normal migration of GnRH neurons. This suggests that the PROK2-PROKR2 pathway affects the function of GnRH neurons after their migration.

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Hereditary paraganglioma presenting with atypical symptoms: Case report

Eguchi S., Ono R., Sato T., Yada K., Umehara N., Narumi S., Ichihashi Y., Nozaki T., Kanomata N., Hasegawa T., Ozawa M., Hasegawa D.

Medicine (United States) 100 （ 46 ）  2021年11月

ISSN  00257974

　概要を見る

Rationale:Paraganglioma (PGL), an extra-adrenal pheochromocytoma, is a rare tumor, especially in children. While hypersecretion of catecholamines causes the classic triad of headaches, palpitations, and profuse sweating, prompt diagnosis is still challenging.Patient concerns:For 7 months, an 8-year-old boy complained of polyuria and weight loss, followed by proteinuria and headache for 1 month prior to admission. He was admitted to our hospital due to an afebrile seizure.Diagnosis:His blood pressure remained markedly elevated even after cessation of the convulsion. Magnetic resonance imaging of the brain revealed posterior reversible encephalopathy syndrome. Abdominal computed tomography showed a mass lesion encasing the left renal artery, measuring 41 mm in length along its major axis. The plasma and urine levels of normetanephrine were elevated. Additionally, iodine-123-metaiodobenzylguanidine scintigraphy showed an abnormal uptake in the abdominal mass with no evidence of metastasis. Based on these findings, we tentatively diagnosed him with PGL.Intervention:Substantial alpha-and beta-blocking procedures were performed, followed by a tumor resection and an extended left nephrectomy on day 31 of hospitalization. Pathological findings confirmed the diagnosis of PGL.Outcome:The postoperative course was uneventful, and his blood pressure normalized without the use of antihypertensive agents. Genetic testing revealed a known SDHB germline mutation. The same mutation was also detected on his father and paternal grandfather without any history of hypertension or malignant tumor.Lesson:It remains challenging to diagnose pheochromocytoma/paraganglioma (PPGL) promptly because PPGL can present with a variety of symptoms. Preceding symptoms of the presented case might be caused by PGL. Although PPGL is a rare disease, especially in children, it should be considered in differential diagnosis when various unexplained symptoms persist.

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An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia

Tao K., Awazu M., Honda M., Shibata H., Mori T., Uchida S., Hasegawa T., Ishii T.

Endocrinology, Diabetes and Metabolism Case Reports 2021 （ 1 ）  2021年04月

　概要を見る

We report a male infant with congenital nephrogenic diabetes insipidus (NDI) who presented with hypercalcemia and hyperphosphatemia since birth. Serum sodium started to increase at 39 days. Although there was no polyuria, urine osmolality was 71 mOsm/kg, when serum osmolality was 296 mOsm/kg with plasma arginine vasopressin 22.5 pg/mL. He was thus diagnosed as NDI. An undetectable level of urine calcium and unsuppressed intact parathyroid hormone suggested hyperparathyroidism including calcium-sensing receptor mutations that could cause hypercalcemia-induced NDI. Polyuria became apparent after the initiation of i.v. infusion for the treatment of hypernatremia. Low calcium and low sodium formula with hypotonic fluid infusion did not correct hypernatremia, hypercalcemia, or hyperphosphatemia. Hydrochlorothiazide and subsequently added celecoxib effectively decreased urine output and corrected electrolytes abnormalities. Normal serum electrolytes were maintained after the discontinuation of low calcium formula. The genetic analysis revealed a large deletion of the arginine vasopressin receptor-2 (AVPR2) gene but no pathogenic variant in the calcium-sensing receptor (CASR) gene. Whether hypercalcemia and hyperphosphatemia were caused by dehydration alone or in combination with other mechanisms remains to be clarified.

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Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

Ushijima K., Ogawa Y., Terao M., Asakura Y., Muroya K., Hayashi M., Ishii T., Hasegawa T., Sekido R., Fukami M., Takada S., Narumi S.

American Journal of Medical Genetics, Part A 185 （ 4 ） 1067 - 1075 2021年04月

ISSN  15524825

　概要を見る

SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication of the total gene or the upstream regulatory region results in testicular development in 46,XX patients. However, gain-of-function (GoF) SOX9 variants have not been reported previously. We report the case of a 16-year-old female patient with a 46,XX karyotype who had masculinized external genitalia and unilateral ovotestis. Next-generation sequencing-based genetic screening for disorders of sex development led to the identification of a novel SOX9 variant (p.Glu50Lys), transmitted from the phenotypically normal father. Expression analysis showed that E50K-SOX9 enhanced transactivation of the luciferase reporter containing the testis enhancer sequence core element compared with that containing the wildtype-SOX9. This GoF activity was not observed in the luciferase reporter containing Amh, the gene for anti-Müllerian hormone. We genetically engineered female mice (Sox9E50K/E50K), and they showed no abnormalities in the external genitalia or ovaries. In conclusion, a novel SOX9 variant with a promoter-specific GoF activity was identified in vitro; however, the disease phenotype was not recapitulated by the mouse model. At present, the association between the GoF SOX9 variant and the ovotestis phenotype remains unclear. Future studies are needed to verify the possible association.

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A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling

Suda K., Fukuoka H., Iguchi G., Kanie K., Fujita Y., Odake Y., Matsumoto R., Bando H., Ito H., Takahashi M., Chihara K., Nagai H., Narumi S., Hasegawa T., Ogawa W., Takahashi Y.

Journal of Clinical Endocrinology and Metabolism 106 （ 3 ） 718 - 723 2021年03月

ISSN  0021972X

　概要を見る

Context: Luscan-Lumish syndrome (LLS) is characterized by postnatal overgrowth, obesity, Chiari I malformation, seizures, and intellectual disability. SET domain-containing protein 2 (SETD2) is a histone methyltransferase, where mutations in the gene are associated with the development of LLS. However, mechanisms underlying LLS remain unclear. Case Description: A 20-year-old man was referred to our hospital because of tall stature. His body height was 188.2 cm (+3.18 SD) and he showed obesity with a body mass index of 28.4 kg/m2. He exhibited acral overgrowth, jaw malocclusion, and prognathism, but no history of seizures, intellectual disability, or speech delay. Serum growth hormone (GH), insulin-like growth factor 1 (IGF-1), and nadir GH levels after administration of 75 g oral glucose were within normal range. Pituitary magnetic resonance imaging showed no pituitary adenoma, but Chiari I malformation. Whole exome sequencing analysis of the proband revealed a de novo heterozygous germline mutation in SETD2 (c.236T>A, p.L79H). Skin fibroblasts derived from the patient grew faster than those from his father and the control subject. In addition, these cells showed enhanced tyrosine phosphorylation and transcriptional activity of signal transducer and activator of transcription 5b (STAT5b) and increased IGF-1 expression induced by GH. Conclusion: This is a mild case of LLS with a novel mutation in SETD2 without neurological symptoms. LLS should be differentiated in a patient with gigantism without pituitary tumors. Although further investigation is necessary, this is the first study to suggest the involvement of aberrant GH signaling in the development of LLS.

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Population-based waist circumference reference values in Japanese children (0-6 years): Comparisons with Dutch, Swedish and Turkish preschool children

Hasegawa T., Inokuchi M., Matsuo N., Takayama J.I.

Journal of Pediatric Endocrinology and Metabolism 34 （ 3 ） 349 - 356 2021年03月

ISSN  0334018X

　概要を見る

Background: During 1978-1981 the Japanese Standards Association conducted a national survey to collect 64 distinct body measurements for Japanese children and adults. During 1978-1981, the prevalence of childhood obesity was relatively low yet the population was well nourished in Japanese children. The aim of this study is to construct waist circumference and waist circumference to stature ratio reference centile curves for Japanese preschool children. Methods: We utilized 1978-1981 national survey data on body sizes. There are 4937 boys and 4758 girls age 0-6 years for waist circumference measurements. Waist circumference was measured at the level of the umbilicus. Using LMS method, centile curves were constructed for waist circumference and waist circumference to stature ratio. These reference values were compared with those of Dutch, Swedish and Turkish children. Results: Centile reference curves were made for clinical and epidemiological use. Japanese children had smaller waist circumference centile values as compared to waist circumference measured at the midpoint of the lowest rib cage and the iliac crest of Dutch, Swedish and Turkish children. However, Japanese children had comparable waist circumference to stature ratio centile values to those of Dutch and Turkish children. Conclusions: This study presents the first age-, sex-, and ethnicity-specific reference values for waist circumference and waist circumference to stature ratio in Japanese preschool children.

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Inactivation of a Frameshift TSH Receptor Variant Val711Phefs∗18 is Due to Acquisition of a Hydrophobic Degron

Sugisawa C., Ono M., Kashimada K., Hasegawa T., Narumi S.

Journal of Clinical Endocrinology and Metabolism 106 （ 1 ） E265 - E272 2021年01月

ISSN  0021972X

　概要を見る

Context: Inactivating variants of thyrotropin (thyroid-stimulating hormone; TSH) receptor (TSHR) cause congenital hypothyroidism. More than 60 such variants have been reported so far, most of which were located in the extracellular or transmembrane domain. Objective: We report the identification and characterization of a frameshift TSHR variant in the intracytoplasmic C-tail region. Methods: Sequencing of TSHR was performed in a patient with congenital hypothyroidism. The functionality of the identified variants was assessed by expressing TSHR in HEK293 cells and measuring TSH-dependent activation of the cAMP-response element-luciferase reporter. A series of systematic mutagenesis experiments were performed to characterize the frameshifted amino acid sequence. Results: The proband was heterozygous for a known TSHR variant (p.Arg519His) and a novel frameshift TSHR variant (p.Val711Phefs∗18), which removed 54 C-terminal residues and added a 17-amino acid frameshifted sequence. The loss of function of Val711Phefs∗18-TSHR was confirmed in vitro, but the function of Val711∗-TSHR was found to be normal. Western blotting showed the low protein expression of Val711Phefs∗18-TSHR. Fusion of the frameshift sequence to green fluorescent protein or luciferase induced inactivation of them, indicating that the sequence acted as a degron. A systematic mutagenesis study revealed that the density of hydrophobic residues in the frameshift sequence determined the stability. Eight additional frameshift TSHR variants that covered all possible shifted frames in C-tail were created, and another frameshift variant (Thr748Profs∗27) with similar effect was found. Conclusions: We characterized a naturally occurring frameshift TSHR variant located in C-tail, and provided a unique evidence that hydrophobicity in the C-terminal region of the receptor affects protein stability.

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Complete androgen insensitivity syndrome with accelerated onset of puberty due to a sertoli cell tumor

Izawa M., Hisamatsu E., Yoshino K., Yoshida M., Sato T., Narumi S., Hasegawa T., Hamajima T.

Clinical Pediatric Endocrinology 30 （ 2 ） 99 - 104 2021年

ISSN  09185739

　概要を見る

Complete androgen insensitivity syndrome (CAIS) is caused by mutations in the androgen receptor gene. Patients with this syndrome have a 46,XY karyotype, male gonads, and normal female external genitalia. While the pre-pubertal risk of developing gonadal tumors is low in these patients, it increases with age. Most gonadal tumors arise from germ cells; stromal cell tumors are uncommon. Herein, we report a CAIS patient with a feminizing Sertoli cell tumor. The patient presented at 8 yr of age with breast enlargement and growth acceleration, concomitant with elevated serum estradiol levels and suppressed serum gonadotropin levels; these findings were inconsistent with CAIS. The patient underwent gonadectomy at 10 yr of age, and histology demonstrated presence of a non-malignant Sertoli cell tumor in the right gonad. We conclude that this is the first reported case of CAIS with accelerated onset of puberty resulting from a Sertoli cell tumor.

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Adenocorical cartinoma characterized by gynecomastia: A case report.

Takeuchi T, Yoto Y, Ishii A, Tsugawa T, Yamamoto M, Hori T, Kamasaki H, Nogami K, Oda T, Nui A, Kimura S, Yamagishi T, Homma K, Hasegawa T, Fukami M, Watanabe Y, Sasamoto H, Tsutsumi H.

Clin Pediatr Endocrinol  27   9-18 2018年

研究論文（学術雑誌）, 共著, 査読有り

Comparison of serum 25-hydroxyvitamin D levels between radioimmunoassay and liquid chromatography tandem mass spectrometry in infants and postpartum women.

Hara K, Ikeda K, Hasegawa T.

J Pediatr Endocrinol Metab 2018年

研究論文（学術雑誌）, 共著, 査読有り

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves’ Disease.

Shimura K, Shibata H, Mizuno Y, Amano N, Hoshino K, Kuroda T, Kameyama K, Matsuse M, Mitsutake N, Sugino K, Noh JY, Hasegawa T, Ishii T.

Hor Res Paediatr 2018年

研究論文（学術雑誌）, 共著, 査読有り

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T.

J Hum Genet  2018年

研究論文（学術雑誌）, 共著, 査読有り

A Novel Mutation in NKX2.1 Shows Dominant-Negative Effects Only in the Presence of PAX8

Shinohara H, Takagi M, Ito K, Shimizu E, Fukuzawa R, Hasegawa T.

28   1071-1073 2018年

研究論文（学術雑誌）, 共著, 査読有り

Methylome analysis of thyroid ectopy showed no disease-specific DNA methylation signature.

Narumi S, Matsubara K, Ishii T, Hasegawa T.

Clin Pediatr Endocrinol  2018年

研究論文（学術雑誌）, 共著, 査読有り

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.

Fukuma M, Takagi M, Shimazu T, Imamura H, Yagi H, Nishimura G, Hasegawa T.

Clin Pediatr Endocrinol  27   193-196 2018年

研究論文（学術雑誌）, 共著, 査読有り

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T.

J Hum Genet 2018年

研究論文（学術雑誌）, 共著, 査読有り

An Association with hypopituitarism and 9q subtelomere deletion syndrome.

Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T.

Clinical Case Reports 2018年

研究論文（学術雑誌）, 共著, 査読有り

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

Ichihashi Y, Takagi M, Ishii T, Watanabe K, Nishimura G, Hasegawa T.

Hum Genome Variation 5   12 2018年

研究論文（学術雑誌）, 共著, 査読有り

A pediatric case of an insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch.

Nakano S, Sato T, Hosokawa M, Takagi C, Yoshida F, Ishii T, Sato S, Hasegawa T.

Clin Pediatric Endocrinol  27   199 2018年

研究論文（学術雑誌）, 共著, 査読有り

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report.

Kusako C, Hori N, Izawa K, Kosaki R, Nishimura G, Hasegawa T.

Oral Science International  15   90-92 2018年

研究論文（学術雑誌）, 共著, 査読有り

Identification of a nonclassic TSH resistance patient with compound heterozygous TSHR mutations (p.[R109Q];[R450H]) and functional characterization of the mutant receptors.

Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S.

Clin Pediatr Endocrinol 27   123-130 2018年

研究論文（学術雑誌）, 共著, 査読有り

A pediatric case of pheochromocytoma without apparent hypertension associated with von Hippel-Lindau disease.

Igaki J, Nishi A, Sato T, Hasegawa T.

Clin Pediatr Endocrinol 27   87-93 2018年

研究論文（学術雑誌）, 共著, 査読有り

Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency.

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T.

J Steroid Biochem Mol Biol  178   177-184 2018年

研究論文（学術雑誌）, 共著, 査読有り

Serum 25-hydroxyvitamin D3 levels of one-month-old term infants in Tokyo using liquid chromatography tandem mass spectrometry.

Hara K, Koyama Y, Wada Y, Ikeda K, Hasegawa T.

Acta Paediatr 107   532-533 2018年

研究論文（学術雑誌）, 共著, 査読有り

Prevalence of central fatness in 1992-1994: 40% of Japanese boys 6-17 years.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T.

Endocrine J  65   213-220 2018年

研究論文（学術雑誌）, 共著, 査読有り

WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T.

J Pediatr Endocrinol Metab 26   33-38 2018年

研究論文（学術雑誌）, 共著, 査読有り

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.

Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T.

Eur J Endocrinol 178   137-144 2018年

研究論文（学術雑誌）, 共著, 査読有り

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Endocrine J 64   229-234 2017年

研究論文（学術雑誌）, 共著, 査読有り

Discordant fetal phenotype of hypophosphatasia in two siblings.

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M.

Am J Med Genet A  176   171-174 2017年

研究論文（学術雑誌）, 共著, 査読有り

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activir: Correlation between clinical phenotypes and enzymatic activity.

Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.

Endocr J  64   1087-1097 2017年

研究論文（学術雑誌）, 共著, 査読有り

Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.

Kizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.

Hor Res Peadiatr 88   316-323 2017年

研究論文（学術雑誌）, 共著, 査読有り

Incidence of diabetes mellitus and neoplasia in Japanese short-statured children treated with growth hormonr in the Genetics and neuroendocrinology of short stature international study (GeNeSIS)

Yokoya S, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Tanaka T, Chihara K, Jia N, Child CJ, Ihara K, Funai J, Iwamoto N, Seino Y.

Clin Pediatr Endocrinol  26   229-241 2017年

研究論文（学術雑誌）, 共著, 査読有り

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H.

Eur J Med Genet  60   635-638 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma.

Uchida N, Amano N, Yamaoka Y, Uematsu A, Sekine Y, Suzuki M, Watanabe J, Nishimoto K, Mukai K, Fukuzawa R, Hasegawa T, Ishii T.

J Endocrine Society  1   1056-1061 2017年

研究論文（学術雑誌）, 共著, 査読有り

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T.

Eur J Endocrinol 177   187-194 2017年

研究論文（学術雑誌）, 共著, 査読有り

The response to growth hormone treatment in prepubertal children with growth hormone deficiency in Japan: Comparing three consecutive years of treatment data of The Foundation for Growth Science in Japan between the 1990s and 2000s.

Isojima T, Hasegawa T, Yokoya S, Tanaka T.

Endor J  30   851-858 2017年

研究論文（学術雑誌）, 共著, 査読有り

Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S.

Endocr J  64   807-812 2017年

研究論文（学術雑誌）, 共著, 査読有り

Clinical practice guideline for congenital hyperinsulinism.

Yorifuji T, Horikawa R, Hasegawa T, Adachi M, Soneda S, Minagawa M, Ida S, Yonekura T, Kinoshita Y, Kanamori Y, Kitagawa M, Shinakai M, Sasaki H, Nio M.

Clin Pediatr Endocrinol 26   127-152 2017年

研究論文（学術雑誌）, 共著, 査読有り

Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome.

Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

Clin Pediatr Endocrinol  26   153-164 2017年

研究論文（学術雑誌）, 共著, 査読有り

Three-quarters adrenalectomy for infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome.

Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, TIzumi T, Narumi S, Hasegawa T, Ihara K.

Hor Res Paediatr  88   285-290 2017年

研究論文（学術雑誌）, 共著, 査読有り

yndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Hum Genome Var 4   17012 2017年

研究論文（学術雑誌）, 共著, 査読有り

Shimada H. Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia

Yamada Y, Shima H, Shibata H, Ishii T, Hasegawa T,

Pediatr Blood Cancer 64 （ 11 ）  2017年

研究論文（学術雑誌）, 共著, 査読有り

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

Ohtaka K, Fujisawa Y, Takada F, Seo M, Kameda H, Hasegawa Y, Hasegawa T, Fukami M, Ogata T.

Hum Mutation 38   503-506 2017年

研究論文（学術雑誌）, 共著, 査読有り

Histological Change of Autoimmune Hepatitis with Graves’ disease; a child case report.

Yamada M, Shibata H, Masugi Y, Ishii T, Kameyama K, Ebinuma H, Hasegawa T.

Inter Med 56   2139-2143 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia cogenita.

Kusano C, Takagi M, Hori N, Murotsuki J, Nishimura G, Hasegawa T.

Hum Genome Var 4   17003 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T.

Am J Med Genet A 173   1071-1076 2017年

研究論文（学術雑誌）, 共著, 査読有り

Whole exome sequencing identified a novel COL2A1 mutation that causes mild spondylo-epiphyseal dysplasia mimicking autosomal dominat bracholmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet 170 （ 3 ） 795 - 798 2016年03月

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline.

Yanase T, Tajima T, Katabami T, Iwasaki Y, Tanahashi Y, Sugawara A, Hasegawa T, Mune T, Oki Y, Nakagawa Y, Miyamura N, Shimizu C, Otsuki M, Nomura M, Akehi Y, Tanabe M, Kasayama S.

Endorine J 30   765 - 784 2016年

共著

Waist-to-height ratio centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data.

Inokuchi M, Matsuo N, Takayama J, Hasegawa T

Int J Obes (London) 40   65 - 70 2016年

共著

Co-administration of the CYP3A4 inhibitor diltiazem counterscts the mitotane-induced clearance of glucocorticoids and antihypertensives in a patient with adrenocortical carcinoma.

Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y.

AACE Clin Case Reports 2   e36-e40 2016年

研究論文（学術雑誌）, 共著, 査読有り

Feminizing adrenocortical cartinoma with distinct histopathological findings.

Hatano M, Takenaka Y, Inoue I, Homma K, Hasegawa T, Sasano H, Awata T, Katayama S.

Intern Med 55   3301-3307 2016年

研究論文（学術雑誌）, 共著, 査読有り

Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.

Maeda E, Higashi T, Hasegawa T, Yokoya S, Mochizuki T, Ishii T, Ito J, Kanzaki S, Shimatsu A, Takano K, Tajim T, Tanaka H, Tanahashi Y, Teramoto A, Nagai T, Hanew K, Horikawa R, Yorifuji T, Wada N, Tanaka T.

BMC Health Services Research  16   602 2016年

研究論文（学術雑誌）, 共著, 査読有り

A case of transient neonatal diabetes due to a novel mutation in ABCC8.

Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T.

Clin Pediatr Endocrinol  25   139-141 2016年

研究論文（学術雑誌）, 共著, 査読有り

The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development.

Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y.

Sex Dev.  10   185-190 2016年

研究論文（学術雑誌）, 共著, 査読有り

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield Syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R , Hasegawa T.

Hum Genome Var 3   16034 2016年

研究論文（学術雑誌）, 共著, 査読有り

Long-term clinical course in three patients with MAMLD1 mutations.

Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Koji M, Ogata T, Muroya K,

Endocrine J 63   835-839 2016年

研究論文（学術雑誌）, 共著, 査読有り

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.

Clin Pediat Endocrinol  25   127-134 2016年

研究論文（学術雑誌）, 共著, 査読有り

A Novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.

Clin Endocrinol 85   669-671 2016年

研究論文（学術雑誌）, 共著, 査読有り

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T.

Eur J Endocrinol 175   127-132 2016年

研究論文（学術雑誌）, 共著, 査読有り

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S,Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Mastumoto N, Hasegawa T.

Nat Genet 48   792-797 2016年

研究論文（学術雑誌）, 共著, 査読有り

Potential utility of cinacalcet as a treatment for CDC73-1 related primary hyperparathyroidism: a case report.

Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamanaka T, Asakura Y, Hasegawa T. Adachi M.

Clin Pediatr Endocrinol 25   91-98 2016年

研究論文（学術雑誌）, 共著, 査読有り

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Gent A  170   1088-1091 2016年

研究論文（学術雑誌）, 共著, 査読有り

Women with Turner syndrome are at high risk of lifestyle-related disease –From questionnaire surveys by the Foundation for Growth Science in Japan.

Hanew K, Tanaka T, Horikawa R, Hasegawa T, Fujita K, Yokoya S.

Endocrine J  63   449-456 2016年

研究論文（学術雑誌）, 共著, 査読有り

Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome.

Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M.

J Steroid Biochem Mol Biol 158   31-37 2016年

研究論文（学術雑誌）, 共著, 査読有り

A case of mature teratoma with a falsely high serum estradiol value measured with immunoassay.

Hosokawa M, Shibata H, Ishii T, Fujino A, Kuroda T, kosaki K, Kameyama K, Hasegawa T.

J Pediatr Endocrinol Metab 29   737-739 2016年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T.

Endocrine J  63   405-410 2016年

研究論文（学術雑誌）, 共著, 査読有り

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.

Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.

Clin Pediatr Endocrinol 25   37-44 2016年

研究論文（学術雑誌）, 共著, 査読有り

Criteria for Radiological Diagnosis of Hypochondroplasia in Neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.

Pediatr Radiol 46   513-518 2016年

研究論文（学術雑誌）, 共著, 査読有り

Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.

Yoshizawa-Ogasawara A, Abe K, Ogikubo S, Narumi S, Hasegawa T, Satoh M.

J Pediatr Endocrinol Metab 29   363-371 2016年

研究論文（学術雑誌）, 共著, 査読有り

Growth references for Japanese individuals with Noonan syndrome.

Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

Pediatr Res  79   543-548 2016年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone.

Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T.

Clin Pediatr Endocrinol  25   19-22 2016年

研究論文（学術雑誌）, 共著, 査読有り

Co-administration of the CYP3A4 inhibitor diltiazem counterscts the mitotane-induced clearance of glucocorticoids and antihypertensives in a patient with adrenocortical carcinoma.

Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y.

AACE Clin Case Reports 2   e36-e40 2016年

研究論文（学術雑誌）, 共著, 査読有り

The distribution and cellular lineages of XX and XY cells in gonads associated with ovotesticular disorder of sexual development.

Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y.

Sex Dev.  10   185-190 2016年

研究論文（学術雑誌）, 共著, 査読有り

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield Syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R , Hasegawa T.

Hum Genome Var 3   16034 2016年

研究論文（学術雑誌）, 共著, 査読有り

Long-term clinical course in three patients with MAMLD1 mutations.

Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Koji M, Ogata T, Muroya K,

Endocrine J 63   835-839 2016年

研究論文（学術雑誌）, 共著, 査読有り

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, Sato S.

Clin Pediat Endocrinol  25   127-134 2016年

研究論文（学術雑誌）, 共著, 査読有り

A Novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T.

Clin Endocrinol 85   669-671 2016年

研究論文（学術雑誌）, 共著, 査読有り

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T.

Eur J Endocrinol 175   127-132 2016年

研究論文（学術雑誌）, 共著, 査読有り

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S,Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Mastumoto N, Hasegawa T.

Nat Genet 48   792-797 2016年

研究論文（学術雑誌）, 共著, 査読有り

Potential utility of cinacalcet as a treatment for CDC73-1 related primary hyperparathyroidism: a case report.

Sato T, Muroya K, Hanakawa J, Yamashita S, Nozawa K, Masudo K, Yamanaka T, Asakura Y, Hasegawa T. Adachi M.

Clin Pediatr Endocrinol 25   91-98 2016年

研究論文（学術雑誌）, 共著, 査読有り

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Gent A  170   1088-1091 2016年

研究論文（学術雑誌）, 共著, 査読有り

Women with Turner syndrome are at high risk of lifestyle-related disease –From questionnaire surveys by the Foundation for Growth Science in Japan.

Hanew K, Tanaka T, Horikawa R, Hasegawa T, Fujita K, Yokoya S.

Endocrine J  63   449-456 2016年

研究論文（学術雑誌）, 共著, 査読有り

Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome.

Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, Fukami M.

J Steroid Biochem Mol Biol 158   31-37 2016年

研究論文（学術雑誌）, 共著, 査読有り

A case of mature teratoma with a falsely high serum estradiol value measured with immunoassay.

Hosokawa M, Shibata H, Ishii T, Fujino A, Kuroda T, kosaki K, Kameyama K, Hasegawa T.

J Pediatr Endocrinol Metab 29   737-739 2016年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T.

Endocrine J  63   405-410 2016年

研究論文（学術雑誌）, 共著, 査読有り

Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.

Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.

Clin Pediatr Endocrinol 25   37-44 2016年

研究論文（学術雑誌）, 共著, 査読有り

Criteria for Radiological Diagnosis of Hypochondroplasia in Neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.

Pediatr Radiol 46   513-518 2016年

研究論文（学術雑誌）, 共著, 査読有り

Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.

Yoshizawa-Ogasawara A, Abe K, Ogikubo S, Narumi S, Hasegawa T, Satoh M.

J Pediatr Endocrinol Metab 29   363-371 2016年

研究論文（学術雑誌）, 共著, 査読有り

Growth references for Japanese individuals with Noonan syndrome.

Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

Pediatr Res  79   543-548 2016年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone.

Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T.

Clin Pediatr Endocrinol  25   19-22 2016年

研究論文（学術雑誌）, 共著, 査読有り

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S

Clin Pediatr Endocrinol 24 （ 4 ） 3167 - 3173 2015年10月

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

Tanaka T, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Kohno H, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujita K, Yorifuji T, Horikawa R, Yokoya S.

Clin Pediatr Endocrinol 24   3167 - 3173 2015年

Distinguishing from primary from secondary delta4-3-oxisteroid 5-reductase (SRD5B1, AKR1D1) deficiencyby urinary ateroid analysis.

Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A

Clin Endocrinol 82   346 - 351 2015年

共著

Pseudodominant Inheritance in a Family with Non-autoimmune Hypothyroidism due to Biallelic DUOX2 Mutations.

Abe K, Narumi S, Suwanai AS, Hamajima T, Hasegawa T

Clin Endocrinol 83   394 - 398 2015年

共著

Elevated levels of plasma immunoassayable aldosterone in a mild form of 17-hydroxylaase/17,20-lyase deficiency diagnosed at the age of 50.

Ueda K, Usui T, Watanabe T, Kaneko K, Nakatani R, Kakita-Kobayashi M, Tanase-Nakao K, Nanba K, Tsuiki M, Tagami T, Naruse M, Toyoda Y, Homma K, Hasegawa T, Shimatsu A

AACE Clin Case Reports 1   e156 - e160 2015年

共著

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-prppeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T

Human Genome Variation 1   14025 2015年

共著

Trends in thin body stature among Japanese female adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol. 42   533 - 537 2015年

共著

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

Eur J Endocrinol 172   37 - 45 2015年

共著

Waist Circumference centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data.

Anzo M, Inokkuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 42   56 - 61 2015年

共著

Treatment of situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols.

Sato N, Hasegawa T, Hasegawa Y, Arisaka O, Ozono K, Amemiya S, Kikuchi T, Tanaka H, Harada S, Miyata J, Tanaka T

Clin Pediatr Endocrinol 24   37 - 49 2015年

共著

Adult phenylketonuria presenting with subacute severe neurologic symptoms.

Seki M, Takizawa T, Suzuki S, Shimizu T, Shibata H, Ishii T, Hasegawa T, Suzuki N

J Clin Neuroscience 22   1361 - 1363 2015年

共著

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.

Nakamura Y, Takagi M, Yoshihashi H, Miura M, Narumi S, Hasegawa T, Miyake Y, Hasegawa Y

Am J Med Genet 167A   1627 - 1631 2015年

共著

Severe osteogenesis imperfect caused by double substitutions of triple helical glycine residues in COL1A2.

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T

Am J Med Genet A 167   1627 - 1631 2015年

共著

A CYP3A4 inhibitor counterscts the mitotane-induced adrenal insufficiency and resistant hypertention in adrenocortical carcinoma.

Minami I, Yoshimoto T, Tsujimoto K, Homma K, Hasegawa T, Ogawa Y

AACE Clin Case Reports in press 2015年

共著

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.

Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai H, Nishimura G, Hasegawa T

Am J Med Genet 167A   2851 - 2854 2015年

共著

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: a case report.

Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M

Am J Med Genet 167A   2430 - 2434 2015年

共著

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M

Eur J Pediatr 174   1593 - 1602 2015年

共著

Human chorionic gonadotropin stimulation test in prepubertal children with micropenis can accurately predict Leydig cell function in pubertal or postpubertal adolescents.

Ishii T. Matsuo N, Sato S, Ogata T, Tamai S, Anzo M, Kamimaki T, Sasaki G, Inokuchi M, Hori N, Amano N, Narumi S, Shibata H, Hasegawa T

Hor Res Paediatr 84   305 - 310 2015年

共著

Combined GH and TSH deficiency in a Japanese patient with a novel frameshift mutation in IGSF1.

Asakura Y, Abe K, Muroya K, Hanakawa J, Oto Y, Narumi S, Hasegawa T, Adachi M

Hor Res Pediatr 84   349 - 354 2015年

共著

A novel mutation of THRB Gene in a Japanese family with resistance to thyroid hormone.

Ito J, Narumi S, Nishizawa K, Kamimaki T, Hori N, Hasegawa T

Clin Pediatr Endocrinol in press 2015年

共著

Growth references for Japanese individuals with Noonan syndrome.

Isojima T, Sakatsume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S

Pediatr Res in press 2015年

共著

TSH resistancerevisited.

Narumi S, Hasegawa T

Endocrine J 62   393 - 398 2015年

共著

原発性性腺機能低下症

長谷川奉延

小児内科増刊号　小児疾患診療のための病態生理２　改訂第5版  （ in press ）  2015年

小児における内分泌機能検査の注意点

志村和浩、長谷川奉延

ホと臨床 in press 2015年

くり返す低血糖後にてんかんを発症した高インスリン血性低血糖症の1例

福間真実、宮井健太郎、高木優樹、後藤正博、鳴海覚志、長谷川奉延、長谷川行洋

小児科診療 78   139 - 141 2015年

Turenr症候群とCAHの合併を認めた副腎偶発腫の一例

岩橋泰幸、福岡秀規、中島進介、井口元三、本間桂子、長谷川奉延、小川渉、高橋裕

日本内分泌学会雑誌 91 （ Supple ） 44 - 46 2015年

Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2

Yoshizawa-Ogasawara A, Abe K, Ogikubo S, Narumi S, Hasegawa T, Satoh M

J Pediatr Endocrinol Metab in press 2015年

小児における内分泌機能検査の注意点

志村和浩、長谷川奉延。　

ホルモンと臨床 （医学の世界社）  62 （ 4 ） 341 - 343 2014年04月

共著

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T.

Human Genome Variation 1 （ 14025 ）  2014年

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.

Clin Endocrinol 80   706 - 713 2014年

共著

Steeper increases in body-mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community.

Kuwahara E, Asakura K, Nishiwaki Y, Komatsu H, Nakawaza A, Ushiku H, Maejima F, Nishigaki Y, Hasegawa T, Okamura T, Takebayashi T

Hypertension Res 37   179 - 184 2014年

共著

Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis.

Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M

Pediatr International 56   112 - 115 2014年

共著

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

Hor Res Paediatr 81   133 - 138 2014年

共著

Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.

Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T

Endocrine J 61   35 - 40 2014年

共著

Trends in thin body stature among Japanese male adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 41   277 - 281 2014年

共著

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T

J Clin Endocrinol Metab 99   E713 - F718 2014年

共著

A novel mutation in SOX3 polyalanine tract: A case of Kabuki syndrome with combined pituitary hormone deficiency harboring bouble mutations in MLL2 and SOX3.

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T

Pituitary 17   569 - 574 2014年

共著

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, takagi M, Hasegawa T, Juppner H, Ozono K

Eur J Pediatr 173   799 - 804 2014年

共著

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

Mitsui T, Kim O-H, Hall C, Johnson D, Jin D-K, Toh T-H, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T

Am J Med Genet A 164A   2529 - 2534 2014年

共著

The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.

Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ

Mol Endocrinol 28   1088 - 1096 2014年

共著

Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.

Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T

Endocrine J 61   849 - 853 2014年

共著

Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M

Hum Mutation 35   1092 - 1100 2014年

共著

Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T

J Clin Endocrinol Metab 99   E2421 - E2428 2014年

共著

Japanese founder duplication/triplications involving BHLHA) are associated with split-hand/foot malformation with or without long bone deficiency and Gallop-Wolfgang complex.

Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K-i, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura N, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T

Orphanet J Rare Disease 9   125 2014年

共著

Effect of growth hormone treatment on quality of life in Japanese children with growth horomone deficiency: An analysis from a prospective observational study.

Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Chihara K, Iwamoto N, Seino Y

Clin Pediatr Endocrinol 23   83 - 92 2014年

共著

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature.

Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T

Horm Res Paediatr 82   138 - 142 2014年

共著

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.

Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T

Human Genome Variation 1   14011 2014年

共著

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T, Adachi M

Clin Pediatr Endocrinol 24   27 - 32 2014年

共著

Urinary steroid profiling: A powerful method for the diagnosis of abnormal steroidogenesis.

Koyama Y, Homma K, Hasegawa T

Exp Rev Endocrinol Metab 9   273 - 282 2014年

共著

A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years.

Ishii T, Matsuo N, Inokuchi M, Hasegawa T

Hor Res Paediatr 82   388 - 393 2014年

共著

C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Olney RC, Prickett TCR, Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB

J Clin Endocrinol Metab 100   E355 - 359 2014年

共著

性分化疾患

林美恵、長谷川奉延

小児科診療 77増刊号「小児の治療指針」   602 - 603 2014年

Antley-Bixler症候群

細川真弓、長谷川奉延

日本臨床 別冊「神経症候群Ⅳ－その他の神経疾患を含めて―（第2版）」　   489 - 491 2014年

肺炎球菌結合型ワクチンと子宮頸がん予防ワクチン

長谷川奉延、新庄正宜

メディカル・サイエンス・ダイジェスト 40   468 - 469 2014年

外陰部異常のみかた

佐々木悟郎、長谷川奉延

小児内科 46   859 - 863 2014年

性腺機能低下症

吉田理恵、長谷川奉延

内科 113   1599 - 1601 2014年

下垂体疾患のトランジション

安蔵慎、長谷川奉延

in press 2014年

成長ホルモン分泌不全性低身長症

上牧務、長谷川奉延

in press 2014年

未治療成人17α水酸化酵素欠損症患者の遺伝的、内分泌学的解析

201. 植田洋平、渡邊知一、臼井健、垣田真似子、中谷理恵子、中尾佳奈子、難波多拳、立木美香、田上哲也、成瀬光栄、金子恵一、本間桂子、長谷川奉延、島津章

日本内分泌学会雑誌 90 （ Suppl ） 72 - 74 2014年

周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ

長谷川奉延

日本周産期・新生児医学会雑誌 50   1198 - 1199 2014年

周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ

長谷川奉延

日本周産期・新生児医学会雑誌 50   1198 - 1199 2014年

遺伝子と性差

室谷浩二、長谷川奉延

日本臨床 73 686-692,2014 73   686 - 692 2014年

性分化疾患の基礎と臨床

長谷川奉延

日本生殖内分泌学会雑誌 19   5 - 9 2014年

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

tKato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.

Clin Endocrinol 80   706 - 713 2014年

Steeper increases in body-mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community.

Kuwahara E, Asakura K, Nishiwaki Y, Komatsu H, Nakawaza A, Ushiku H, Maejima F, Nishigaki Y, Hasegawa T, Okamura T, Takebayashi T.

Hypertension Res 37   179 - 184 2014年

Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis.

Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M.

Pediatr Int 56   112 - 115 2014年

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.

Hor Res Paediatr 81   133 - 138 2014年

Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study. 

Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T.

Endocrine J 61   35 - 40 2014年

Trends in thin body stature among Japanese male adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T.

Ann Hum Biol 41   277 - 281 2014年

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T.

J Clin Endocrinol Metab 99   E713 - F718 2014年

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring bouble mutations in MLL2 and SOX3.

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.

Pituitary 17   569 - 574 2014年

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, takagi M, Hasegawa T, Juppner H, Ozono K.

Eur J Pediatr 173   799 - 804 2014年

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim O-H, Hall C, Johnson D, Jin D-K, Toh T-H, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T. 

Am J Med Genet A 164A   2529 - 2534 2014年

The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.

Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ.

Mol Endocrinol 28   1088 - 1096 2014年

Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.

Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T.

Endocrine J 61   849 - 853 2014年

Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.

Hum Mutation 35   1092 - 1100 2014年

Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.

Hum Mutation 35   1092 - 1100 2014年

Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T.

J Clin Endocrinol Metab 99   E2421 - E2428 2014年

Japanese founder duplication/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gallop-Wolfgang complex.

Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura N, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T.

Orphanet J Rare Disease 9   125 - 125 2014年

日齢７に感染を契機に副腎不全が増悪したX連鎖性先天性副腎低形成症の1例

1. 谷口裕子、門田行史、英雅世、醍醐政樹、嶋岡鋼、梅﨑光、田中吾朗、沼崎啓、福田冬季子、山形崇倫、天野直子、長谷川奉延、桃井真里子、郡司勇治

小児科臨床 66   247 - 252 2013年

Congenital hypothyroidism caused by a novel mutation of the dual oxidase2 (DUOX2) gene.

Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T

J Pediatr Endor Met 26   45 - 52 2013年

共著

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S-i, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T

J Inherit Metab Dis 36   565 - 573 2013年

共著

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

Suwanai SA, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T

Clin Endocrinol 78   957 - 965 2013年

共著

Reference intervals of urinary free adrenal steroids in Japanese newborn infants using stable isotope dilution - gas chromatography / mass spectrometry.

Koyama Y, Homma K, Miwa M, Ikeda K, Murata M, Hasegawa T

Clin Chem Acta 415   302 - 305 2013年

共著

Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.

Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, Hasegawa T

Am J Med Genet A 161A   214 - 217 2013年

共著

Spousal choice by height in as urban middle-class Japanese

Uchida K, Matsuo N, Hori N, Hasegawa T, Takahashi T

Hum Biol 85   619 - 621 2013年

共著

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing.

Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T

PLos One 8   e60525 2013年

共著

An observational study of the effectiveness and safety of growth hormone (HUmatrope) treatment in Japanese children with growth hormone deficiency or turner syndrome.

Tai S, Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Fujieda K, Chihara K, Seino Y

Endcr J 60   57 - 64 2013年

共著

A homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T

Endcrine J 60   855 - 859 2013年

共著

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T

PLos One 8   e60105 2013年

共著

A recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V with broad phenotypic spectrum.

Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishiura G, Hasegawa T

Am J Med Genet A 161A   1980 - 1982 2013年

共著

Novel compound heterozygous mutations of the growth horomone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M

GH IGF Res 23   89 - 97 2013年

共著

Association between Graves’ Disease and Renal Coloboma Syndrome: a case.

Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M

Clin Pediatr Endocrinol 22   45 - 51 2013年

単著

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S-i, Watanabe K, Ogura T, Matsubara Y

Am J Hum Genet 93   173 - 180 2013年

共著

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T

Eur J Med Genet 56   526 - 528 2013年

共著

Heterozygous mutations in natriuretic peptide receptor-B gene (NPR2) as a cause of idiopathis short stature.

Vasques GA, Naoko A, Quedas EPS, Docko AJ, Funari MF, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AA

J Clin Endocrinol Metat 98   E1636 - 1644 2013年

共著

Characteristic testicular histology is useful for the identification of NR5A1 gene mutation in prepubertal 46,XY patients.

Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y

Hor Res Paediatr 80   119 - 128 2013年

共著

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocrine J 60:51-55,2013.

Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami T, Aoyagi H, Ishizu K, Tajima T

Endocrine J 60   51 - 55 2013年

共著

Pseudopseudohypoparathyroidism with a novel mutation in the GNAS gene showing thin bones of extremities and ossification of enthuses.

Hamasaki H, Mukaino T, Kaneko H, Mitsui T, Moriyama S, Hasegawa T, Yanai H

J Endocrinol Metab 3   150 - 152 2013年

共著

A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.

Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H

Tohoku J Exp Med 231   75 - 84 2013年

共著

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.

Fukami M, Homma K, Hasegawa T, Ogata T

Dev Dynamics 242   320 - 329 2013年

共著

尿ステロイドプロフィルによる新生児副腎皮質疾患の早期診断

本間桂子、長谷川奉延

小児科臨床 66   199 - 207 2013年

182. 鳴海覚志、長谷川奉延。　次世代シークエンサーによる先天性内分泌疾患の分子基盤の解明　医学のあゆみ　　245 427-432 (2013) 次世代シークエンサーによる先天性内分泌疾患の分子基盤の解明

鳴海覚志、長谷川奉延

医学のあゆみ 245   427 - 432 2013年

クラインフェルター症候群

長谷川奉延

分子精神医学 13   220 - 221 2013年

副腎皮質系機能検査の進め方

柴田浩憲、長谷川奉延

小児内科 45   827 - 831 2013年

高カリウム血症 副腎不全

吉田理恵、長谷川奉延

小児内科 45   1603 - 1606 2013年

急性化膿性甲状腺炎・亜急性甲状腺炎・無痛性甲状腺炎

土岐真智子、上野滋、長谷川奉延

小児科 54   1213 - 1219 2013年

甲状腺疾患に対する遺伝子検査

鳴海覚志、長谷川奉延

小児科 54   1105 - 1112 2013年

先天性甲状腺機能低下症の遺伝子診断

鳴海覚志、長谷川奉延

ホと臨床 61   67 - 74 2013年

小児肥満症に対する集学的治療

井ノ口美香子、長谷川奉延

ホと臨床 61   177 - 182 2013年

内分泌疾患－成人と小児で成因・病態・診断・治療・合併症・予後は同じか－

長谷川奉延

ホと臨床 61   335 - 336 2013年

17OHP

小山雄平、長谷川奉延

ホと臨床 61   467 - 471 2013年

エピジェネティクス：内分泌科医が理解すべき遺伝学の新しい視点

長谷川 奉延

ホと臨床 61   591 - 592 2013年

偽性副甲状腺機能低下症：GNAS遺伝子とインプリンティング

三井俊賢、長谷川奉延

ホと臨床 61   653 - 658 2013年

生殖補助医療、性ホルモン補充を行わず、妊娠・出産に至った先天性リポイド副腎過形成の1例

磯部まり子、市川義一、池ノ内学、山田卓博、根本泰子、服部政博、住友直文、西澤和倫、長谷川奉延

静岡産婦人科学会雑誌 2   38 - 43 2013年

8歳で診断された甲状腺ペルオキシダーゼ（TPO）遺伝子異常による甲状腺腫性クレチン症の女児例

福留啓祐、坂口善市、阿部容子、木下ゆき子、市原朋子、藤井笑子、関口隆憲、大原克明、鳴海覚志、阿部清美、長谷川奉延

高松赤十字病院紀要 1   4 - 44 2013年

日本人の成長ホルモン分泌不全性低身長症における成長ホルモン治療　ノルディトロピン®製造販売後調査（NordiPAD®）からの中間報告―脂質代謝に対する影響を中心に―　45 2061-2068,2013

田島敏広、安達昌功、大薗恵一、田中敏章、長谷川奉延、堀川玲子、横谷進、冨田美香

ノルディトロピン®製造販売後調査（NordiPAD®）からの中間報告―脂質代謝に対する影響を中心に― 45   2061 - 2068 2013年

被虐待児症候群と鑑別が困難であった骨系統疾患の2例

今嶋由香理、北野元裕、上田孝文、岡本伸彦、髙木優樹、長谷川奉延

近畿小児整形外科 25   33 - 36 2012年

小児内分泌疾患の診断と治療　－日本と世界は何が同じで何が違うのか－

長谷川 奉延

ホと臨床 60   667 2012年

先天性副腎皮質過形成

天野直子、長谷川奉延

小児内科 44増刊号   2210 - 2211 2012年

RSウイルス感染症とインフルエンザウイルス感染症について

長谷川奉延、新庄正宜

クリニシアン 59   782 - 784 2012年

ホルモン受容体異常症を通してホルモンと受容体の機能を再整理・理解しよう

長谷川 奉延

ホと臨床 60 （ 495 ） 495 - 496 2012年

新生児マス・スクリーニング検査の17α水酸化プロゲステロン（17-OHP）高値を契機に、内分泌学的検査をもとに診断されたACTH非依存性Cushing症候群の1例

12. 橘田一輝、田久保憲行、昆信也、大津成之、風張眞由美、横田行史、笹野公伸、本間桂子、長谷川奉延、石井正浩

日本マス・スクリーニング学会誌 22   212 - 216 2012年

FGFR3異常症

髙木優樹、長谷川奉延

ホと臨床 60   535 - 541 2012年

Atypical Achondroplasia due to Somatic Mosaicism for the Common Thanatophoric Dysplasia Mutation R248C.

Takagi M, Kaneko-Schmitt S, Suzumori N, Nishimura G, Hasegawa T

Am J Med Genet A 158A   247 - 250 2012年

共著

Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients.

Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M

Am J Med Genet 158A   630 - 634 2012年

共著

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.

Mitsui T, Nagasaki K, Takagi M, Narumi S, Ishii T, Hasegawa T

Am J Med Genet A 158A   261 - 264 2012年

共著

Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using urinary pregnanetriolone/tetrahydroxycortisone ratio and 11-hydroxyandrosterone by gas...

Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M

Clin Chem 58   741 - 747 2012年

共著

Mosaic upd(7)mat in a patient with Silver-Russell syndrome.

Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T

Am J Med Genet 158A   465 - 468 2012年

共著

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney.

Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y, Hasegawa T, Abe T

J Pediatr Endocr Met 25   587 - 590 2012年

共著

Favorable impact on growth hormone treatment on cholesterol levels in Turner syndrome.

Kohno H, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujieda K, Fujita K, Horikawa R, Yokoya S, Yorifuji T, Tanaka T

Clin Pediatr Endocrinol 21   29 - 34 2012年

共著

A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein.

Ishii T, Mitsui T, Suzuki S, Matsuzaki Y, Hasegawa T

Endocrinol 153   2714 - 2723 2012年

共著

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfect.

Takagi M, Ishii T, Barnes AM, Weis MA, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T

PLos One 7   e36809 2012年

共著

Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography (CT): the current state of fetal CT.

Akizawa Y, Nishimura G, Hasegawa T, Takagi M, Kawamichi Y, Matsuda Y, Matsui H, Saito K

Cong Anomalies(Kyoto) 52   203 - 206 2012年

共著

Hypoglycemia associated with L-asparaginase in acute lymphoblastic leukemia treatment: a case report.

Tanaka R, Osumi T, MiharuM, Ishii T, Hasegawa T, Takahashi T, Shimada H

Exp Hematol Oncol 1   8 2012年

共著

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S

J Med Genet 49   533 - 538 2012年

共著

Recurrence of osteogenesis imperfect due to maternal mosaicism of a novel COL1A1 mutation.

Yamada T, Takagi M, Nishimura G, Akaishi R, Furuta I, Morikawa M, Yamada T, Cho K, Sawai H, Ikegawa S, Hasegawa T, Minakami H

Am J Med Genet A 158A   2969 - 2971 2012年

共著

Functional characterization of four novel PAX 8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a a disease mechanism.

Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T

Eur J Endocrinol 167   625 - 632 2012年

共著

Gradual loss of ACTH due to a novel mutation in LHX4: Comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

PLos One 7   e46008 2012年

共著

成長曲線を正しく使おう―身長・体重・頭囲・座高・腹囲・伸展陰茎長・精巣容積・BMI―

井ノ口美香子、長谷川奉延

小児科診療 75   353 - 361 2012年

内分泌器官の器官形成とその異常

鳴海覚志、長谷川奉延

小児科診療 75   483 - 489 2012年

ホルモンが関係する病気

長谷川奉延

からだの科学 272   98 - 101 2012年

子どものホルモンの病気をご存じですか？

長谷川奉延

塾 273   25 2012年

なぜ今、日常診療に小児内分泌学か？

長谷川奉延

小児科診療 75   9 2012年

副腎皮質機能低下症のアルゴリズム

天野直子、長谷川奉延

小児内科 44   588 - 592 2012年

マッキュン・オルブライト症候群

堀尚明、長谷川奉延

内科 109   1312 - 1313 2012年

先天性副腎ステロイド産生異常症の最近の話題

長谷川奉延

最新医学 67   1989 - 1995 2012年

小児科領域から見た小児の成長障害

有安大典、長谷川奉延

臨床整形外科 47   1202 - 1206 2012年

グルココルチコイド反応性アルドステロン症(GRA)

林美恵、長谷川奉延

ホと臨床 60   189 - 192 2012年

先天性副腎皮質過形成症

佐藤武志、長谷川奉延

ホと臨床 60   227 - 231 2012年

小児慢性疾患の生活指導（思春期早発症および遅発症、ターナー症候群）

佐々木悟郎、長谷川奉延

小児科臨床 65   727 - 733 2012年

機能低下型TSH受容体変異

鳴海覚志、長谷川奉延

ホと臨床 60   501 - 506 2012年

GNAS変異陰性ー偽性副甲状腺機能低下症IaにおけるGNAS遺伝子領域の全てを含む欠失の同定

三井俊賢、長崎啓祐、高木優樹、鳴海覚志、石井智弘、長谷川奉延

ホルモンと臨床 201 （ 59 ） 1085-1087 2011年12月

研究論文（学術雑誌）, 共著

A neonatal onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

長谷川 奉延

J Inherit Metab Dis 33 （ Suppl 3 ） S307 - S313 2011年12月

研究論文（学術雑誌）, 共著

グルコキナーゼ遺伝子新規変異による先天性インスリン過剰症の一家族例

七尾謙治、依藤亨、上牧務、勝丸雅子、高橋亨岳、志賀健太郎、姜知佳、井上達秀、長谷川奉延

ホルモンと臨床 201 （ 59 ） 1049-1051 2011年12月

研究論文（学術雑誌）, 共著

Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfect type IIC and dense bone variant.

長谷川 奉延

Am J Med Genet 155A （ 9 ） 2269 - 2273 2011年09月

研究論文（学術雑誌）, 共著

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

長谷川 奉延

J Clin Endocrinol Metab 96 （ 8 ） E1340 - E1345 2011年08月

研究論文（学術雑誌）, 共著

Syndrome of inappropriate anti-diuretic hormone in Kawasaki disease.

長谷川 奉延

Pediatr International 53 （ 3 ） 354 - 357 2011年06月

研究論文（学術雑誌）, 共著

内臓肥満評価におけるBMIの位置づけ―日本人肥満小児におけるBMIと内臓脂肪量・肥満合併症との関係―

井ノ口美香子、荒木俊介、土橋一重、朝山光太郎、長谷川奉延、徳村光昭、南里清一郎

慶應保健研究 29   25 - 29 2011年

Tracking of BMI in Japanese children from 6 to 18 years of age: Reference values for annual BMI incremental change and proposal for size of increment indicative of risk for obesity

長谷川 奉延

Ann Hum Biol 38   146-149 2011年

研究論文（学術雑誌）, 共著

Medical professionalism教育の一環としての白衣式における誓いの言葉プロジェクト

戸谷遼、奥山訓子、神山圭介、安井哲也、長谷川奉延、平形道人、渡辺賢治

医学教育 42 （ 5 ） 283-287 2011年

研究論文（学術雑誌）, 共著

Prenatal diagnosis of osteogenesis imperfect type II by three-dimensional ultrasound and computed tomography.

Suzumori N, Hasegawa T, Sugiura-Ogasawara M

J Obstet Gynaecol Res 37   664 - 665 2011年

共著

Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients.

Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T

J Clin Endicrinol Metab 96   E1838 - 1842 2011年

共著

BMI z-score is the optimal measure of annual adiposity change in elementary children.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 38   747 - 751 2011年

共著

PAX8 mutation disturbing thyroid follicular growth: A case report.

Narumi S, Yoshida A, Muroya K, Asakura Y, Adachi M, Fukuzawa R, Kameyama K, Hasegawa T

J Clin Endocrinol Metab 96   E2039 - 2044 2011年

共著

Free cortisol/cortisone ration in pooled urine was increased after rapid-ACTH stimulation test under dexamethasone suppression.

Koyama Y, Homma K, Murata M, Shibata H, Itoh H, Hasegawa T

Endocrine J 58   1099 - 1103 2011年

共著

先天性甲状腺機能低下症の遺伝子診断

鳴海覚志、長谷川奉延

ホと臨床 59   565 - 572 2011年

先天性副腎皮質過形成症

細川真弓、長谷川奉延

ホと臨床 59   1001 - 1006 2011年

軽症あるいは軽度小児内分泌疾患の定義と治療適応・治療戦略をどう考えるか

長谷川奉延

ホと臨床 59   863 - 864 2011年

非古典型副腎過形成症

天野直子、長谷川奉延

ホと臨床 59   875 - 879 2011年

。高用量GH治療によりターナー症候運の治療効果：ターナー症候群GH治療共同研究（TRC）の7年間の治療経験

9. 田中敏章、五十嵐裕、大薗恵一、大山健司、小川正道、長田久雄、鬼形和道、神崎晋、河野斉、清野佳紀、高橋弘昭、田島敏広、立花克彦、田中弘之、西美和、長谷川奉延、藤枝憲二、藤田敬之助、堀川玲子、横谷進、依藤亨

日本成長学会雑誌 17   9 - 15 2011年

Medical professionalism教育の一環としての白衣式における誓いの言葉プロジェクト

戸谷遼、奥山訓子、神山圭介、安井哲也、長谷川奉延、平形道人、渡辺賢治

医学教育 42   283 - 287 2011年

成長ホルモン分泌不全性低身長症における成長ホルモン前思春期の治療開始年齢別治療効果

8. 田中敏章、伊藤純子、神崎晋、島津章、田中弘之、寺本明、永井敏郎、長谷川奉延、羽二生邦彦、藤田敬之助、堀川玲子、向井徳男、和田尚弘、横谷進

日本成長学会雑誌 16   23 - 29 2010年

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a7.2-kb microdeletion using oligonucleotide tiling microarray

長谷川 奉延

Am J Med Genet 152A   133-140 2010年

研究論文（学術雑誌）, 共著

The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias

長谷川 奉延

J Urol 76   97-100 2010年

研究論文（学術雑誌）, 共著

Transcription-factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients

長谷川 奉延

J Clin Endocrinol Metab 95   1981-1985 2010年

研究論文（学術雑誌）, 共著

Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing’s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome

長谷川 奉延

Endocrine J 57   819-824 2010年

研究論文（学術雑誌）, 共著

Progression of Goiter in Pendred Syndrome is Associated with Increase of Thyroidal Iodine Uptake but not with Iodine Organification Defect: Report of a Patient with SLC26A4 Mutations

長谷川 奉延

Am J Med Genet 152A   1793-1997 2010年

研究論文（学術雑誌）, 共著

One novel and two recurrent THRB mutations associated with resistance to thyroid hormone: Structure-based computational mutation prediction

長谷川 奉延

Clin pediatr Endocrinolo 19   91-99 2010年

研究論文（学術雑誌）, 共著

Ruvalcaba syndrome revisited

長谷川 奉延

Am J Med Genet 152A   1854-1857 2010年

研究論文（学術雑誌）, 共著

Late manifestations of Tricho-Rhino-Pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

長谷川 奉延

Am J Med Genet 152(A)   2115-2119 2010年

研究論文（学術雑誌）, 共著

小児期メタボリックシンドロームの早期診断とその意義

井ノ口美香子、長谷川奉延

小児科診療 73   277 - 282 2010年

思春期における性分化疾患の治療とカウンセリング

天野直子、長谷川奉延

産婦人科の実際 59   447 - 452 2010年

アンドロゲン不応症

天野直子、長谷川奉延

産科と婦人科 77   1283 - 1287 2010年

家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討

長崎啓祐、鳴海覚志、浅見直、小川洋平、菊池透、長谷川奉延、内山聖

ホと臨床 57   1001 - 1005 2010年

尿中遊離型ベタメサゾンGC/MS測定法の確立と母体投与早産児尿中遊離型ベタメサゾン分析　ホと臨床 57 1013-1015 (2010)

小山雄平、本間桂子、三輪雅之、丹羽房子、河井昌彦、村田満、池田一成、長谷川奉延

ホと臨床 57   1013 - 1015 2010年

日本における21-水酸化酵素欠損症の出生前診断・治療の現状調査

田島敏広、長谷川奉延、小川英伸、堀川玲子、木下英一、原田正平、猪股弘明、安達昌功、西美和、楠田聡、大関武彦、藤枝憲二

ホと臨床 57   1021 - 1023 2010年

SF-1, DAX-1と小児内分泌疾患

佐々木悟郎、長谷川奉延

ホと臨床 58   157 - 162 2010年

性分化異常症

林美恵、長谷川奉延

小児科診療 73   563 - 564 2010年

中枢性尿崩症

本田美紗、長谷川奉延

小児内科増刊号 42   664 - 666 2010年

副腎疾患と成長障害

諏訪内亜由子、長谷川奉延

小児内科 42   571 - 577 2010年

非古典型21水酸化酵素欠損症の治療は必要か？

高木優樹、長谷川奉延

ホと臨床 58   335 - 339 2010年

骨形成不全症

高木優樹、長谷川奉延

ホと臨床 58   587 - 593 2010年

先天性甲状腺機能低下症の分子遺伝学

鳴海覚志、長谷川奉延

ホと臨床 58   565 - 571 2010年

遺伝子レベルよりみた性差

天野直子、長谷川奉延

診断と治療 98   1087 - 1092 2010年

中枢性尿崩症

本田美紗、長谷川奉延

小児内科 42   664 - 666 2010年

アンドロゲン不応症

天野直子、長谷川奉延

産科と婦人科 77 1283-1287 (2010) 77   1283 - 1287 2010年

非古典型21水酸化酵素欠損症の治療は必要か?

高木優樹、長谷川奉延

ホと臨床 58   335 - 339 2010年

胎児骨形成不全II型の一例　東海産婦人科学会雑誌 46:121-125,2009.

大林伸太郎、鈴森伸宏、水谷栄太、服部幸雄、北折珠央、金子さおり、鈴木佳克、高木優樹、長谷川奉延、杉浦真弓

東海産婦人科学会雑誌 46   121 - 125 2009年

低ゴナドトロピン性性腺機能低下症の成因と治療

長谷川 奉延

小児科臨床 62   1779 - 1784 2009年

小児のアンドロゲン

佐々木悟郎、石井智弘、本間桂子、長谷川奉延

臨床泌尿器科 63   117 - 121 2009年

小児における副腎ホルモン補充療法の現状と展望

林美恵、長谷川奉延

ホと臨床 57   905 - 908 2009年

性分化異常症発症責任遺伝子MAMALD1の臨床的および分子遺伝学的解析

深見真紀、和田友香、上松あゆ美、長谷川奉延、緒方勤

ホと臨床 57   1025 - 1029 2009年

小児期発症バセドウ病薬物治療のガイドライン

4. 佐藤浩一、佐々木望、原田正平、田中敏章、赤須文人、朝山光太郎、荒田尚子、猪股弘明、大江秀美、鬼形和道、神崎晋、杉原茂孝、田尻淳一、田中弘之、西山宗六、長谷川奉延、長谷川行洋、深田修司、百渓尚子、横谷進、吉村弘、森昌朋、藤枝憲二

日児誌 112   946 - 952 2008年

SF-1 mutation in human.

Hasegawa T

GGH 24   1 - 5 2008年

単著

内分泌疾患診療の進歩と展望

長谷川奉延

小児科診療 71   2001 - 2006 2008年

小児成長障害における本邦のGH治療の現状

上牧務、長谷川奉延

内分泌・糖尿病科 26   419 - 424 2008年

軟骨無形成症、軟骨低形成症

上牧務、長谷川奉延

小児内科 40   1797 - 1800 2008年

低ゴナドトロピン性性腺機能低下症・思春期早発症とGPR54

髙木優樹、長谷川奉延

ホと臨床 56   779 - 786 2008年

小児のCushing症候群の診断と問題点

天野直子、長谷川奉延

ホと臨床 56   1107 - 1111 2008年

先天性甲状腺機能低下症におけるTSH不応症の臨床的および遺伝学的検討

長崎啓祐、鳴海覚志、浅見直、菊池透、長谷川奉延、内山聖

ホと臨床 56   1213 - 1216 2008年

SGA児とAGA児における成長ホルモン長期治療効果の比較

田中敏章、伊藤純子、島津章、田中弘之、寺本明、永井敏郎、長谷川奉延、羽二生邦彦、藤田敬之助、堀川玲子、向井徳男、和田尚弘、横谷進

ホと臨床 56   1199 - 1202 2008年

性分化異常

佐々木悟郎、長秀男、長谷川奉延

小児内科 40増刊号   786 - 792 2008年

HDR症候群16家系29例の臨床分子遺伝学的解析 転写因子GATA3腎尿路系発生における役割についての考察

室谷浩二、安達昌功、山中美智子、田中美緒、田中祐吉、長谷川奉延、緒方勤

発達腎研究会誌 16   29 - 35 2008年

年齢別およびSGA児とAGA児における成長ホルモン治療の1年目の効果の比較

田中敏章、伊藤純子、島津章、田中弘之、寺本明、永井敏郎、長谷川奉延、羽二生邦彦、藤田敬之助、堀川玲子、向井徳男、和田尚弘、横谷進

日本成長学会雑誌 14   25 - 30 2008年

ターナー症候群におけるエストロゲン補充療法ガイドライン　日児誌 112:1048-1050,2008.

田中敏章、横谷進、長谷川奉延、神崎晋、杉原茂孝、田中弘之、原田正平、藤枝憲二

日児誌 112   1048 - 1050 2008年

成長・成熟の異常　やせ

井ノ口美香子、長谷川奉延

小児科診療 増刊号   235 - 237 2007年

肥満

井ノ口美香子、長谷川奉延

小児科 48   662 - 666 2007年

成長障害から発見されたCushing症候群

井ノ口美香子、長谷川奉延

小児内科 39   742 - 744 2007年

下垂体・視床下部性性腺機能不全―hCG, hMG/rhFSH療法

堀尚明、長谷川奉延

小児内科 39   948 - 949 2007年

著しい身長増加に気づかれながら3年間診断されなかった甲状腺機能亢進症の1例

柳忠宏、井ノ口美香子、堀尚明、長谷川奉延、高橋孝雄

小児科 48   1095 - 1097 2007年

早発乳房

長谷川奉延

ホと臨床 55   251 - 253 2007年

KIGS Publications

大薗恵一、長谷川奉延

ホと臨床 55   801 - 809 2007年

副腎皮質ホルモン補充療法

鈴木亜由子、長谷川奉延

日本臨床 66   157 - 162 2007年

先天性副腎低形成症

天野直子、長谷川奉延

小児科 44   1677 - 1681 2007年

高インスリン血性低血糖症の診断と治療ガイドライン

長谷川奉延、田中敏章、神崎晋、杉原茂孝、横谷進、田中弘之、原田正平、藤枝憲二

日本小児科学会雑誌 110   1472 - 1474 2006年

ACTH負荷試験

天野直子、長谷川奉延

小児内科 38   1270 - 1272 2006年

内分泌疾患（特集：小児から成人へのキャリオーバー）

井ノ口美香子、長谷川奉延

小児科 47   1526 - 1532 2006年

外性器の異常

石井智弘、長谷川奉延

小児内科 38（増刊号　小児疾患の診断治療基準　第3版）   85 - 86 2006年

性分化の異常

石井智弘、長谷川奉延

小児内科 38（増刊号　小児疾患の診断治療基準　第3版）   218 - 220 2006年

成長期日本人における骨代謝動態の解析　若年発症神経性食欲不振症の骨密度

松崎健一郎、長谷川奉延、高石官成、戸山芳昭

Osteoporosis Japan 14   723 - 725 2006年

骨形成不全症の診療ガイドライン

田中弘之、田中敏章、神崎晋、杉原茂孝、横谷進、長谷川奉延、原田正平、藤枝憲二

日本小児科学会雑誌 110   1468 - 1471 2006年

CRF負荷試験

吉田理恵、長谷川奉延

小児内科 38   1268 - 1269 2006年

Analyasis of the NSD1 promoter region in patients with a Sotos syndrome phenotype

Visser R, HASEGAWA T, Niikawa N, Matsumoto N

J Hum Genet 51   15-20 2006年

研究論文（学術雑誌）, 共著, 査読有り

Growth-chart-based qualitative evaluation for height growth after hematopoietic stem cell transplantation.

Narumi S, Hasegawa T, Shimada H, Shimasaki N, Takahashi T, Mori T

Pediatric Transplantation 10   26 - 30 2006年

共著

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis.

Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T

Pediatr Res 59   276 - 280 2006年

共著

バニリルマンデル酸(VMH)、ホモバニリン酸(HVA) 　最新臨床検査のABC

長谷川奉延

日本医師会雑誌 135 （ 特別号(2) ） S250 2006年

単著

17-ヒドロキシプロジェステロン（17-OHP） 最新臨床検査のABC

長谷川奉延

日本医師会雑誌 135 （ 特別号(2) ） S269 2006年

単著

ガラクトース、フルクトース 最新臨床検査のABC

長谷川奉延

日本医師会雑誌 135 （ 特別号(2) ） S283 2006年

SF-1異常症

長谷川 奉延

ホルモンと臨床 54   513 - 518 2006年

成長ホルモン分泌不全性低身長症

長谷川 奉延

ドクターサロン 50   32 - 35 2006年

責任遺伝子の特定された副甲状腺機能低下症X連鎖劣性副甲状腺機能低下症

工藤京子、佐藤清二、長谷川奉延

ホと臨床 54   571 - 574 2006年

共著

成長障害（低身長）を伴う愛情遮断症候群

井ノ口美香子、長谷川奉延

日本臨床別冊 内分泌症候群1   102 - 104 2006年

性腺形成不全

望月利美、長谷川奉延

日本臨床別冊 内分泌症候群2   494 - 496 2006年

17α-ヒドロキシラーゼ欠損症

蜂屋瑠見、長谷川奉延

日本臨床別冊　内分泌症候群2 内分泌症候群2   689 - 691 2006年

11β-ヒドロキシラーゼ欠損症

鳴海覚志、長谷川奉延

日本臨床別冊 内分泌症候群2   699 - 701 2006年

Russell-Silver症候群

小崎健次郎、泉幸佑、長谷川奉延

日本臨床別冊 内分泌症候群3   436 - 439 2006年

性腺疾患（特集　内科疾患最新の治療―専門家からのアドバイス―）

鳴海覚志、長谷川奉延

内科 97   1404 - 1405 2006年

古典的21-水酸化酵素欠損症

長谷川 奉延

周産期医学 35 （ 12 ） 1645-1650 2005年12月

研究論文（学術雑誌）, 単著

包茎に対するステロイド薬塗布は効果があるのか？

堀　尚明,　長谷川 奉延

小児内科 37 （ 11 ） 1559-1561 2005年11月

研究論文（学術雑誌）, 共著

T-box転写因子TBX3(TBX3)

佐々木悟郎,　長谷川 奉延

生体の科学 56 （ 5 ） 370-371 2005年10月

研究論文（学術雑誌）, 共著

ヒトSF-1遺伝子異常症

長谷川 奉延

日本生殖内分泌学会雑誌 10   55-57 2005年09月

研究論文（学術雑誌）, 単著

生殖補充医療と外陰部異常

長谷川奉延

ホルモンと臨床 53   701 - 706 2005年

単著

遺伝レベルよりみた性差

室谷浩二,　長谷川奉延

治療学 39   235-239 2005年

研究論文（学術雑誌）, 共著

Association of micropenis and pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.

Soneda S, Fukami M, Fujimoto M, Hasegawa T, Koitabashi Y, Ogata T.

Endocrine J 52   83-88 2005年

研究論文（学術雑誌）, 共著, 査読有り

Resumption of menstration and nutritional status in female patients with early onset anorexia nervosa.

Hori N, Inokuchi M, Yoshida R, Sato A, Choe M-S, Watanabe H, Hasegawa T.

Clin Pediatr Endocrinol 14 （ Suppl 22 ） 73-76 2005年

研究論文（学術雑誌）, 共著, 査読有り

Correlation between Insurin-like Growth Factor-Ⅰand Obesity Index during Inpatient Treatment in Anorexia Nervosa in Childhood and Adolescence

Myong-soon Choe, Sato A, Watanabe H,Hasegawa T

Clin Pediatr Endocrinol 14 （ Suppl 24 ） 21-23 2005年

研究論文（学術雑誌）, 共著, 査読有り

体質性思春期遅発症の治療は行うべきか？

七尾謙治、長谷川奉延

小児内科 37   1075 - 1077 2005年

共著

Two Novel and One Recurrent PTPN11 Mutations in LEOPARD Syndrome.

Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T.

Am J Med Genet 130A （ 4 ） 432-434. 2004年11月

研究論文（学術雑誌）, 共著, 査読有り

Premature ovarian failure in a female with proximal symphalangism and NOG mutation.

Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T.

Fertil Steril 81 （ 4 ） 1137-1139 2004年04月

研究論文（学術雑誌）, 共著, 査読有り

Genetic testing of glycogen storage disease type Ib in Japan: mutation spectrum in the G6PT1 gene and a rapid detection method for a prevalent W118R mutation.

Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Aoki Y, Suzuki Y, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y.

Mol Genet Metab 81 （ 4 ） 343-346 2004年04月

研究論文（学術雑誌）, 共著, 査読有り

Clinical assessment and mutaion analysis of Kallmann syndrome a (KAL1) and fibroblast growth factor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, HasegawaY, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T.

J Clin Endocrinol Metab 89 （ 3 ） 1079-1088 2004年03月

研究論文（学術雑誌）, 単著, 査読有り

GATA3ハプロ不全の多彩な臨床像 11家系20症例の検討

室谷浩二、長谷川奉延、長谷川行洋、坪内肯二、中込美子、菊池信行、伊藤善也、藤田敬之助、深見真紀、緒方勤

ホルモンと臨床 52   965 - 970 2004年

単著

自己免疫性多腺性症候群

石井智弘, 長谷川奉延, 鈴木賀巳

小児内科 36   1550-1553 2004年

研究論文（学術雑誌）, 共著

Enchondromaatosis (Ollier) 内軟骨腫症 (Ollier病)

佐々木悟郎, 長谷川奉延

小児内科 36 （ 増刊 ） 257−259 2004年

研究論文（学術雑誌）, 共著

Type II microcephalic osteodysplastic dysplasia　小頭性骨異形成異形成症II型

堀尚明, 長谷川奉延

小児内科 36 （ 増刊 ） 199−201 2004年

研究論文（学術雑誌）, 共著

Low birth weight slender bone group　低出生体重の細長い骨疾患グループ—概説

堀尚明, 長谷川奉延

小児内科 36 （ 増刊 ） 197−198 2004年

研究論文（学術雑誌）, 共著

先天性リポイド副腎過形成症の乳児の卵巣機能

上牧務, 長谷川奉延

ホルモンと臨床　特集内分泌興味ある症例　第45集 52 （ 増刊 ） 104−107 2004年

研究論文（学術雑誌）, 共著

外性器異常を有し生後3週まで社会的性を決定されなかった1例

鈴木亜由子, 井ノ口美香子, 下郷幸子, 佐々木理恵, 堀尚明, 長谷川奉延, 高橋孝雄

小児科臨床 57   113-119 2004年

研究論文（学術雑誌）, 共著

Genomic organization and sequence variation of the human integrin subunit &#61537;8 gene (ITGA8).

Ekwa-Ekoba C, Diaz G, Carlson C, Hasegawa T, Lim K-c, Yabu J, Levy B, Schnapp LM.

Matrix Biol 23   487-496 2004年

研究論文（学術雑誌）, 共著, 査読有り

Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates.

Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, Toyoura T, Jinno K, Ohashi T, Hamajima T, Takahashi Y, Takahashi T, Matsuo N.

J Clin Endocrinol Metab 89   6087-6091 2004年

研究論文（学術雑誌）, 共著, 査読有り

A case of preterm infant with 21-hydroxylase deficiency; the implication of the biochemical diagnosis by urinary pregnanetriolone using GCMS-SIM (gas chromatography mass spectrometry-selected ion monitoring).

Hamajima T, Ohki S, Mizuno H, Homma K, Hasegawa T.

Clin Pediatr Endocrinol 13   65-70 2004年

研究論文（学術雑誌）, 共著, 査読有り

Transient hyper17-OHPnemia unremated to cross-reactions with residual fetal adrenal cortex products.

Mizuno H, Ohro Y, Sugiyama Y, Ito T, Hasegawa T, Homma K, Ueshiba H, Togari H.

Hor Res 61 （ 5 ） 242-245 2004年

研究論文（学術雑誌）, 共著, 査読有り

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, Fukutani K, Morohashi K-i, Ogata T

J Clin Endocrinol Metab 89   5930 - 1935 2004年

共著

Noonan症候群の遺伝的基盤

吉田理恵, 谷川奉延, 緒方勤

小児科診療 67   1599-1604 2004年

研究論文（学術雑誌）, 共著

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mitation of steroidogenic factor-1

HASEGAWA TOMONOBU

J Clin Endocrinol Metab 89 （ 12 ） 5930-5935 2004年

研究論文（学術雑誌）, 共著, 査読有り

Two novel and recurrent PTPN11 mutations in LEOPARD syndrome

長谷川 奉延

Am J Med Genet 130A （ 4 ） 432-434 2004年

研究論文（学術雑誌）, 共著, 査読有り

Multiple polypoid masses in gastrointestinal tract in Menkes disease during copper-histidine therapy

Sasaki G, Ishii T, Sato S, Hoshino K, Morikawa Y, Kodama H, Matsuo N, Takahashi T, Hasegawa T

Eur J Pediatr 163 （ 12 ） 745-746 2004年

研究論文（学術雑誌）, 共著, 査読有り

Protein-tyrosine phosphotase, nonreceptor type 11 mutation and clinical assessment in 45 patients with Noonan syndrome

Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Hoikawa R, Tanaka T, Ogata T.

J Clin Endocrinol Metab 89 （ 7 ） 3359-3364 2004年

研究論文（学術雑誌）, 共著, 査読有り

Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in 53 Japanese boys with micropenis

Ishii T, Sasaki G, Hasegawa T, Sato S, Matsuo N, Ogata T

J Urol 172 （ 1 ） 319-323 2004年

研究論文（学術雑誌）, 共著, 査読有り

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13

Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T.

Am J Med Genet 129A （ 3 ） 321-322 2004年

研究論文（学術雑誌）, 共著, 査読有り

A newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia and overgrowth: report of three sporadic patients

Nishimura G, Hasegawa T, Kinoshita E, Tanaka Y, Kurosawa K, Yoshimoto M.

Am J Med Genet 128A （ 2 ） 204-208 2004年

研究論文（学術雑誌）, 共著, 査読有り

A new diagnostic test for very-long-chain acyl-CoA dehydrogenase deficiency using immunohistochemistry

Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Kamata H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I.

Neurology 62 （ 12 ） 2209-2213 2004年

研究論文（学術雑誌）, 共著, 査読有り

Metaphyseal dysplasia Jansen type　骨幹端異形成症Jansen型

佐々木悟郎,　長谷川奉延

小児内科 36 （ 増刊 ） 374−375 2004年

研究論文（学術雑誌）, 共著

Type II microcephalic osteodysplastic dysplasia　小頭性骨異形成異形成症II型

堀尚明, 長谷川奉延

小児内科 36 （ 増刊 ） 199−201 2004年

研究論文（学術雑誌）, 共著

Low birth weight slender bone group　低出生体重の細長い骨疾患グループ—概説

堀尚明, 長谷川奉延

小児内科 36 （ 増刊 ） 197−198 2004年

研究論文（学術雑誌）, 共著

先天性リポイド副腎過形成症の乳児の卵巣機能

上牧務, 長谷川奉延

ホルモンと臨床 特集内分泌興味ある症例　第45集 52 （ 増刊 ） 104−107 2004年

研究論文（学術雑誌）, 共著

学校における神経性食欲不振症早期発見の試み

田中徹哉, 石井敬子, 廣金和枝, 佐藤明弘, 崔明順, 藤田尚代, 長谷川奉延, 徳村光昭, 川合志緒子, 南里清一郎, 木村慶子, 渡辺久子

慶應保健研究 22   55-59 2004年

研究論文（学術雑誌）, 共著

Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring.

Homma K, Hasegawa T, Masumoto M, Takeshita E, Watanabe K, Chiba H, Kurosawa T, Takahashi T, Matsuo N.

Endocrine J 50 （ 6 ） 783-792 2003年12月

研究論文（学術雑誌）, 単著, 査読有り

Longitudinal auxological study in female with SHOX haploinsufficiency and normal ovarian function.

Fukami M, Matsuo N, Hasegawa T, Sato S, Ogata T.

Eur J Endocrinol 149 （ 4 ） 337-341 2003年10月

研究論文（学術雑誌）, 共著, 査読有り

Micropenis and the 5&#61537;-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, Takahashi T, Hasegawa T, Matsuo N.

J Clin Endocrinol Metab 88 （ 7 ） 3431-3436 2003年07月

研究論文（学術雑誌）, 共著

Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL

Sasaki Rie, Inamo Yasugi, Saitoh Kazumasa, Hasegawa Tomonobu, Kinoshita Eiichi, Ogata Tsutomu

Endocrine journal 50 （ 3 ） 303-307 2003年06月

研究論文（学術雑誌）, 共著, 査読有り

Giant seminoma in a patient with 5a-reductase-2 deficiency

Sasaki Gen, Nakagawa Ken, Hashiguchi Akinori, Hasegawa Tomonobu, Ogata Tsutomu, Murai Masaru

Journal of urology 169 （ 3 ） 1080-1081 2003年03月

研究論文（学術雑誌）, 共著

Ischiospinal dysostosis with cystic kidney disease: report of two cases

Nishimura G, Kim OH, Satoh S, Hasegawa T.

Clin Dysmorphol 12   101-104 2003年

研究論文（学術雑誌）, 共著, 査読有り

Micropenis and the 5a-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

Sasaki Goro, Ogata Tsutomu, Ishii Tomohiro, Kosaki Kenjiro, Sato Seiji, Homma Keiko, Takahashi Takao, Hasegawa Tomonobu, Matsuo Nobutake

Journal of clinical endocrinology and metabolism 88 （ 7 ） 3431-3436 2003年

研究論文（学術雑誌）, 共著

Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency

Sasaki Goro, Nakagawa Ken, Hashiguchi Akinori, Hasegawa Tomonobu, Ogata Tsutomu, Murai Masaru

Journal of urology 169   1080-1081 2003年

研究論文（学術雑誌）, 共著

Microcephalic osteodysplastic primordial dwarfism type II with Cafe-au lait spots and Moyamoya disease

Nishimura Gen, Hasegawa Tomonobu, Hori Naoaki, Fujino Motoko, Tomita Yukiharu.

American journal medical genet 117A   299-301 2003年

研究論文（学術雑誌）, 共著

Final height of female patients with early-onset anorexia nervosa

Hori Naoaki, Inokuchi Mikako, Sasaki Rie, Myong-sun, Watanabe Hisako, Hasegawa Tomonobu

Clinical Pediatric Endocrinology 87 （ 8 ）  2003年

研究論文（学術雑誌）, 共著

Final height of female patients with early-onset anorexia nervosa.

Hori N, Inokuchi M, Sasaki R, Choe M-s, Watanabe H, Hasegawa T.

Clin Pediatr Endocrinol 12 （ Supple20 ） 77-79 2003年

研究論文（学術雑誌）, 共著, 査読有り

生後2ヶ月まで17OHP高値が遅延し，診断に苦慮したマススクリーニング陽性者の一例

水野晴夫，杉山由賀里，伊藤哲哉，戸苅創，大呂陽一郎，長谷川奉延，本間桂子，上芝元

ホルモンと臨床 50冬季増刊号 （ 12 ） 118-120 2002年12月

研究論文（学術雑誌）, 共著

Lack of correlation between the endocrinological abnormalities and obesity index in anorexia nervosa in childhood and adolescence.

Inokuchi M, Hasegawa T, Hori N, Choe M-s, Tokita N, Watanabe H, Matsuo N.

Clin Pediatr Endocrinol 11 （ Suppl17 ） 73-75 2002年11月

研究論文（学術雑誌）, 共著, 査読有り

ACTH不応症

佐々木悟郎，石井智弘，長谷川奉延

小児内科 34 （ 増刊 ） 676-679 2002年11月

研究論文（学術雑誌）, 共著

The roles of circulating high density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein.

Hasegawa T, Ishii T, Pai C-I, Yvgi-Ohana N, Timberg R, Zhao L, Majdic G, Chung B-c, Orly JC, Parker KL.

Mol Endocrinol 16 （ 10 ） 2297-2309 2002年10月

研究論文（学術雑誌）, 共著, 査読有り

Autopsy case of microcephalic osteodysplastic primordial 'dwarfism' type II

Fukuzawa Ryuji, Sato Seiji, Sullivan Michael J, Nishimura Gen, Hasegawa Tomonobu, Matsuo Nobutake

Am J Med Genet 113 （ 1 ） 93-96 2002年08月

研究論文（学術雑誌）, 共著

GH / IGFIと男性性腺機能

佐々木悟郎，長谷川奉延

内分泌糖尿病科15 15 （ Suppl1 ） 157-160 2002年08月

研究論文（学術雑誌）, 共著

Duplication of 8p23.2: a benign cytogenetic variant ?

Harada Naoki, Takano Jun, Kondoh Tatsuro, Ohashi Hirofumi, Hasegawa Tomonobu, Sugawara Hirobumi, Ida Tomoko, Yoshiura Koichiro, Ohta Tohru, Kishino Tatsuo, Kajii Tadashi, Niikawa Norio, Matsumoto Naomichi

Am journal of medical genetics 111 （ 3 ） 285-288 2002年08月

研究論文（学術雑誌）, 共著

性腺機能低下症

井ノ口香子，長谷川奉延

小児科診療 65 （ 増刊 ） 403-404 2002年04月

研究論文（学術雑誌）, 共著

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis

Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Hasegawa T, Takahashi T, Matsuo N, Kosaki K

Teratology 65 （ 1 ） 10-18 2002年01月

研究論文（学術雑誌）, 共著

ミクロペニス

佐々木悟郎、長谷川奉延

小児科診療) 65   1579 - 1583 2002年

共著

IGF-1による治療　(1) 成長ホルモン (GH) 不応症

松尾宣武，長谷川奉延

成長発達  （ 9 ） 4-6 2002年

研究論文（学術雑誌）, 共著

成長ホルモン適応基準の解説

上牧務，長谷川奉延

小児科臨床  （ 55 ） 1243-1250 2002年

研究論文（学術雑誌）, 共著

生後2ヶ月まで17-OHP高値が遷延し，診断に苦慮したマススクリーニング陽性者の1例

水野晴夫，杉山由賀里，伊藤哲哉，戸苅創，大呂陽一郎，長谷川奉延，本間桂子，上芝元

ホルモンと臨床 50 （ 増刊号 ） 118-120 2002年

研究論文（学術雑誌）, 共著

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome

Sasaki Goro, Ogata Tsutomu, Ishii Tomohiro, Hasegawa Tomonobu, Sato Seiji, Matsuo Nobutake

Am J Med Genet 110 （ 4 ） 365-369 2002年

研究論文（学術雑誌）, 共著

Lack of correlation between the endocrinological abnormalities and obesity index in anorexia nervosa in childhood and adolescence

Inokuchi Mikako, Hasegawa Tomonobu, Hori Naoaki, Choe Myong-sun, Tokita Natsuko, Watanabe Hisako, Matsuo Nobutake

Clinical Pediatric Endocrinology 11 （ Suppl17 ） 73-75 2002年

研究論文（学術雑誌）, 共著

A case of impairment of mitochondrial fatty acid β-oxidation (Clinico-pathological conference).

Hasegawa T, Hori N, Du W.

Keio J Med 51   100 - 106 2002年

共著

SF-1遺伝子異常症、WT1異常症

長谷川 奉延

小児科診療 65   1564 - 1569 2002年

単著

出生後に甲状腺機能亢進症を呈した,胎内治療を行った甲状腺腫性甲状腺機能低下症の1例

佐藤清二，井ノ口美香子，佐々木悟郎，北東功，石井智弘，長谷川奉延，池田一成，松尾宣武

ホルモンと臨床 49 （ 12 ） 1159-1162 2001年12月

研究論文（学術雑誌）, 共著

Female gonadal development in XX patients with distal 9p monosomy

Ogata T, Muroya K, Ohashi H, Mochizuki H, Hasegawa T, Kaji M

European Journal of Endocrinology 145 （ 5 ） 613-617 2001年11月

研究論文（学術雑誌）, 共著

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T

Journal Medical Genetics 38 （ 6 ） 374-380 2001年06月

研究論文（学術雑誌）, 共著

Melnick-Needles症候群

長谷川奉延

小児科診療 64 （ 3 ） 406 2001年03月

研究論文（学術雑誌）, 単著

性染色体異常症候群

長谷川奉延

臨床検査 45 （ 2 ） 143-150 2001年02月

研究論文（学術雑誌）, 単著

女子性腺機能低下症

長谷川奉延

ホルモンと臨床　増刊号「臨床に役立つ内分泌疾患診療マニュアル2001」 49 （ 増刊号 ） 165-168 2001年01月

研究論文（学術雑誌）, 単著

EEC症候群

長谷川奉延

小児科診療 64 （ 1 ） 30 2001年01月

研究論文（学術雑誌）, 単著

出生後に甲状腺機能亢進症を呈した,胎内治療を行った甲状腺腫性胎児甲状腺機能低下症の1例

佐藤清二，井ノ口美香子，佐々木悟郎，北東功，石井智弘，長谷川奉延，池田一成，松尾宣武

日本小児科学会雑誌 105   599 2001年

研究論文（学術雑誌）, 共著

【小児内分泌疾患の診断基準・治療のガイドラインUPDATE】　性腺　新生児半陰陽

長谷川奉延

ホルモンと臨床 49   967-974 2001年

研究論文（学術雑誌）, 単著

【副腎疾患の診断基準・治療のガイドラインUPDATE】　副腎皮質疾患〈機能亢進症〉　21水酸化酵素欠損症

長谷川奉延

ホルモンと臨床 49   579-585 2001年

研究論文（学術雑誌）, 単著

SF-1遺伝子異常症

長谷川奉延

小児科診療 64   932-933 2001年

研究論文（学術雑誌）, 単著

【染色体　検査と社会とのかかわり】　性染色体異常症候群

長谷川奉延

臨床検査 45   143-150 2001年

研究論文（学術雑誌）, 単著

小児の症候群　骨・関節・結合職　Melnick-Needles症候群

長谷川奉延

小児科診療 64   408 2001年

研究論文（学術雑誌）, 単著

【小児の症候群】　染色体・奇形　EEC症候群

長谷川奉延

小児科診療 64   30 2001年

研究論文（学術雑誌）, 単著

【臨床に役立つ内分泌疾患診療マニュアル2001】　女子性腺機能低下症　(1)原発性性腺機能低下症　(2)続発性性腺機能低下症

長谷川奉延

ホルモンと臨床 49   165-168 2001年

研究論文（学術雑誌）, 単著

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata

Ikegawa S, Ohashi H, Ogata Tsutomu, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa Tomonobu, Nishimura G, Nakamura Y

American Journal of Human Genetics 94 （ 4 ） 300-305 2000年10月

研究論文（学術雑誌）, 共著

SF-1遺伝子異常症

長谷川奉延

ホルモンと臨床 48 （ 8 ） 715-722 2000年08月

研究論文（学術雑誌）, 単著

Digynic triploid infant surviving for 46days

Hasegawa Tomonobu, Harada N, Ikeda Kazushige, Ishii Tomohiro, Hokuto Isamu, Kasai Kenji, Tanaka Mamoru, Fukuzawa Ryuji, Niikawa N, Matsuo Nobutake

American journal of medical genetics 87 （ 4 ） 306-310 1999年12月

研究論文（学術雑誌）, 共著

Spondylo-metaphyseal dyaplasia with regressive platyspondyly

Hasegawa T, Kozloowski K, Nishimura G, Hara H, Hasegawa Y, Aso T, Kato S, Nagai T, Tsuchiya Y

Locomotor System 6 （ 1 ） 53-59 1999年11月

研究論文（学術雑誌）, 共著

薬剤の臨床 小児便秘症に対するML-P(ラクツロース散剤）の有用性の検討

辻敦敏，松尾宣武，長谷川奉延，白幡聡，梶原康巨，郡建男，石塚丈広，森泰二郎，竹田周吾，萩原誠一，長谷川元宏

小児科診療 61 （ 3 ） 451 1998年

研究論文（学術雑誌）, 共著

Free from insulin－like growth factor-1 in circulation is normal in children with simple obesity

Hasegawa Tomonobu, Takada Yukihiro, Takada Makoto, Ishii Tomohiro, Sato Seiji, Matsuo Nobutakae

Hormone Research 49 （ Suppl 1 ） 51 1998年

研究論文（学術雑誌）, 共著

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations:A new syndrome?

Nishimura Gen, Hasegawa Tomonobu, Sugii Kyoko, Tsuyama Kaiichiro, Matsuo Nobutake

Journal of Human Genetics 43 （ 3 ） 191-194 1998年

研究論文（学術雑誌）, 共著, 査読有り

A case of de novo interstitial deletion of chromosome 7, del(7)(q31,2q32)

Hasegawa Tomonobu, Nagai Toshiro, Yamada Ken-ichiro, Tsuchiya Yutaka

Acta Med Auxol 29 （ 3 ） 165-169 1997年12月

研究論文（学術雑誌）, 共著

真性半陰陽を有する SRY negative XX maleの一例：内性器の検討と成因の考察

永井敏郎，川目裕，黒澤健司，木下英一，緒方勤，長谷川奉延，松尾宣武，中井秀郎

ホルモンと臨床 45 （ 臨時増刊 ） 225-228 1997年11月

研究論文（学術雑誌）, 共著

尿中アルドステロン，18-ヒドロキシコルチコステロンおよび18-ヒドロキシコルチゾール代謝物の基準値および臨床応用

本間桂子，竹下栄子，渡辺清明，上牧務，長谷川奉延，佐藤清二，猿田享男，村井勝，松尾宣武

ホルモンと臨 45 （ 9 ） 813-821 1997年09月

研究論文（学術雑誌）, 共著

性腺形成不全と染色体

長谷川奉延，松尾宣武

産と婦 64 （ 5 ） 613-617 1997年05月

研究論文（学術雑誌）, 共著

Pit-1異常症（先天性GH,PRL,TSH複合欠損症）

長谷川奉延

小児科 38 （ 3 ） 235-235 1997年03月

研究論文（学術雑誌）, 単著

先天性TSH単独欠損症

長谷川奉延

小児科 38 （ 2 ） 108-108 1997年02月

研究論文（学術雑誌）, 単著

Further clnical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata

Ogata Tsutomu, Hasegawa Tomonobu, Matsuo Nobutake

Hum Genet 99 （ 2 ） 290-290 1997年02月

研究論文（学術雑誌）, 共著

High ration of free to total insulin-like growth factor- I in early infancy

Hasegawa Yukihiro, Hasegawa Tomonobu, Fujii Katsura, Koni Hideko, Anzo Makoto, Aso Taiji, Koto Shinobu, Takada Makoto, Tsuchiya Yutaka

J Clin Endocrinol Metab 82 （ 1 ） 156-158 1997年01月

研究論文（学術雑誌）, 共著

Serum acid-labile subunit is a good parameter for diagnosis of GH deficiency

Yamada Makoto, Fujii Katsura, Hasegawa Tomonobu, Hasegawa Yukihiro

Clin Pediatr Endocrinol 6 （ Suppl 9 ） 99-101 1997年

研究論文（学術雑誌）, 共著

A case of skeletal dysplasia with advanced carpal ossification and 'monkey wrench' appearance of the femora:mild Desbuquois dysplasia?

Nishimura Gen, Sato Seiji, Ogata Tsutomu, Tamai Shinya, Hasegawa Tomonobu, Matsuo Nobutake

Eur J Pediatr 155   1040-1042 1996年12月

研究論文（学術雑誌）, 共著

周期的月経を有するTurner症候群の1例

田中紀子， 長谷川行洋， 長谷川奉延， 土屋裕

小児科診療 59 （ 9 ） 1515-1518 1996年09月

研究論文（学術雑誌）, 共著

小児内分泌科医の提案するGender Assignmentの原則

長谷川行洋，長谷川奉延

泌尿器外科 9 （ 7 ） 563-568 1996年07月

研究論文（学術雑誌）, 共著

Short term growth hormone treatment for a girl with osteodysplastic primordial dwarfism type II

Sato Seiji, Anzo Makoto, Hasegawa Tomonobu, Kamimaki Tsutomu, Matsuo Nobutake

Clin Pediatr Endocrinol 5 （ Suppl.8 ） 139-141 1996年06月

研究論文（学術雑誌）, 共著

Clinical utility of insulin-like growth factor-I (IGF-I)and IGFbinding protein-3 levels in the diagnosis of GH deficiency(GHD)during childhood

Hasegawa Yukihiro, Hasegawa Tomonobu, Anzo Makoto, Aso Taiji, Tsuchiya Yutaka

Endcr J 43 （ Suppl ） S1-S4 1996年05月

研究論文（学術雑誌）, 共著

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype:a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

Hasegawa Tomonobu, Ogata Tsutomu, Hasegawa Yukihiro, Honda Masataka, Nagai Toshiro, Fukushima Yoshimitsu, Nakahori Yutaka, Matsuo Nobutake

Hum Genet 97 （ 5 ） 564-567 1996年05月

研究論文（学術雑誌）, 共著

ガスクロマトグラフ質量分析法による尿ステロイド分析

松尾宣武，佐藤清二，緒方勤，長谷川奉延，安蔵慎，上牧務，室谷浩二，本間桂子，竹下栄子，渡辺清明

小児診 59 （ Suppl. ） 264-272 1996年04月

研究論文（学術雑誌）, 共著

軟骨異栄養症 (軟骨無形成症) 59症例に対する遺伝子組み換え技術によるヒト成長ホルモン (NN-798) の成長促進効果の検討

清野佳紀、諏訪珹三、新美仁男、松尾宣武、安井夏生、鎮目和夫、日比逸郎、田中敏章、奥野晃正、藤枝憲二、五十嵐裕、佐藤清二、土屋裕、立花克彦、安田敏行、大山建司、五十嵐良雄、小川正道、衣笠昭彦、須藤正克、山岡完次、郷司克己、田中弘之、西美和、貴田嘉一、倉繁隆信、宮田晃一郎、小野星吾、西山宗六、河野斉、玉那覇栄一、伊藤善也、長谷川行洋、長谷川奉延、麻生泰二、南谷幹史、小川治夫、浅井寿、山本威久、久保俊英、伊藤卓夫、荒木久美子、大坪修介、宮里善次

ホルモンと臨床 43   77 - 86 1995年

共著

Clinical utility of total insulin-like growth factor-I and insulin-like growth factor binding protein-3 measurements in the evaluation of short children.

Hasegawa Y, Hasegawa T, Tsuchiya Y.

Clin Pediatr Endocrinol 4   103 - 113 1995年

共著

Clinical information on serum IGFBP-3 levels and IGFBP-3 proteolytic activity in childhood.

Hasegawa Y, Hasegawa T, Fujii K, Konii H, Anzo M, Aso T, Kotoh S, Tsuchiya Y

Prog Growth Factor Res 6   457 - 463 1995年

共著

友達の輪

長谷川 奉延

さかえ 34   37 1994年