KEIO RESEARCHERS INFORMATION SYSTEM

Career 【 Display / hide 】

Career 【 Display / hide 】

• 1992.04

  -

  1994.06

  Keio University School of Medicine,, Department of Pediatrics, Resident (Pediatrics)

• 1994.07

  -

  1996.07

  Ota General Hospital, Department of Pediatrics, Residenct (Pediatrics)

• 1996.08

  -

  2000.05

  Keio University School of Medicine, Department of Pediatrics, Instructor

• 2000.06

  -

  2005.03

  University of Texas Southwestern Medical Center, Division of Endocrinology and Metabolism, Department of internal medicine, Postdoctoral research fellow

• 2005.04

  -

  2013.04

  Keio University School of Medicine, Department of Pediatrics, Instructor

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Academic Background 【 Display / hide 】

Academic Background 【 Display / hide 】

• 1986.04

  -

  1992.03

  Keio University, School of Medicine

  University, Graduated

Academic Degrees 【 Display / hide 】

Academic Degrees 【 Display / hide 】

• Steroidogenic acute regulatory protein欠損マウスの表現型における高密度リポ蛋白と性腺刺激ホルモンの関与, Keio University, Dissertation

Licenses and Qualifications 【 Display / hide 】

Licenses and Qualifications 【 Display / hide 】

• Medical licence

• Certified Pediatrician, 1996.04

• Certified Expert Clinical Geneticist, 2005.12

• Board-certified Endocrinologist, 2006.04

Research Areas 【 Display / hide 】

Research Areas 【 Display / hide 】

• Life Science / Metabolism and endocrinology

• Life Science / Embryonic medicine and pediatrics

Research Keywords 【 Display / hide 】

Research Keywords 【 Display / hide 】

• steroid hormone

• Adrenal cortex

• Adrenal insufficiency

• Disorders of sex development

• Hypogonadism

Research Themes 【 Display / hide 】

Research Themes 【 Display / hide 】

• Mechanism of cholesterol transfer by steroidogenic acute regulatory protein, 

  2000.06

  -

  Present

Books 【 Display / hide 】

Books 【 Display / hide 】

• Transcriptome Analysis of Adrenocortical Cells in Health and Disease

  Ishii T., Cellular Endocrinology in Health and Disease, Second Edition, 2021.01

  　View Summary

  The transcriptome is the complete set of transcripts in a specific type of cell or tissue. Generally, the goal of transcriptome analysis is to identify genes differentially expressed among different conditions, leading to a new understanding of the genes or pathways associated with the conditions. Transcriptome analysis requires an appropriate statistical method with a multiple comparison test to interpret global changes in the expression of thousands of genes. This chapter overviews and describes recent progress in the transcriptome analysis of adrenocortical cells. Strategies for determining transcriptomes and data processing to interpret analysis have been discussed. Representative studies have been introduced: an adrenocortical cell line with small interference RNA-knockdown experiment revealed steroidogenic factor-1 functions as a “regulone” that orchestrate tissue-specific steroidogenic regulation and housekeeping metabolic regulation and a mouse model for human lipoid congenital adrenal hyperplasia indicated a reciprocal interaction between steroidogenic cells and adjacent macrophages both fulfilled with cholesterol ester droplets. Analysis of global transcript profiling will be an essential tool for future research on the nature of adrenocortical cells.

  • Access to Document (DOI)

• Cellular endocrinology in health and disease

  ISHII TOMOHIRO, Academic Press, 2014.03

  Scope: Transcriptome analysis of adrenocortical cells in health and disease

Papers 【 Display / hide 】

Papers 【 Display / hide 】

• 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 （Journal of Pediatric Endocrinology and Metabolism)  36 （ 8 ） 786 - 790 2023.08

  ISSN  0334018X

  　View Summary

  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.

  • Access to Document (DOI)

• 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 （Child's Nervous System)  39 （ 4 ） 1065 - 1069 2023.04

  ISSN  02567040

  　View Summary

  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.

  • Access to Document (DOI)

• 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 （Radiology Case Reports)  18 （ 1 ） 91 - 93 2023.01

  　View Summary

  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.

  • Access to Document (DOI)

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

  ISSN  09185739

  　View Summary

  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.

  • Access to Document (DOI)

• Potential risk of inguinal hernia in complete androgen insensitivity syndrome

  Kimizuka Y., Sato T., Nakano S., Ishii T., Hasegawa T.

  Clinical Pediatric Endocrinology （Clinical Pediatric Endocrinology)  32 （ 1 ） 76 - 78 2023

  ISSN  09185739

  • Access to Document (DOI)

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Papers, etc., Registered in KOARA 【 Display / hide 】

Papers, etc., Registered in KOARA 【 Display / hide 】

• The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing

  Ishii, Tomohiro

  科学研究費補助金研究成果報告書 2020

• Elucidation of the pathophysiology of steroid hormone biosynthesis in lipoid congenital adrenal hyperplasia by establishing a mouse or cell line model

  Ishii, Tomohiro

  科学研究費補助金研究成果報告書 2018

• Model cell-line and model animals of MIRAGE syndrome

  Ishii, Tomohiro

  科学研究費補助金研究成果報告書 2017

• Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein

  Ishii, Tomohiro

  科学研究費補助金研究成果報告書 2013

• The role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by BAC transgenesis in vivo

  Ishii, Tomohiro

  科学研究費補助金研究成果報告書 2010

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Reviews, Commentaries, etc. 【 Display / hide 】

Reviews, Commentaries, etc. 【 Display / hide 】

• Gonadotropin-dependent precocious puberty in a female offspring who is a potential carrier for BRCA2 pathogenic variant: An additional consideration for gonadotropin-releasing hormone agonist treatment

  Tsuura K., Sato T., Nakano S., Ishii T., Hasegawa T.

  Pediatric Blood and Cancer (Pediatric Blood and Cancer)  70 ( 6 )  2023.06

  ISSN  15455009

  • Access to Document (DOI)

• Potential usefulness of assessing serum betamethasone levels during betamethasone therapy

  Yano M., Sato T., Nakano S., Shimozato S., Ishii T., Hasegawa T.

  Journal of Pediatric Endocrinology and Metabolism (Journal of Pediatric Endocrinology and Metabolism)   2023

  ISSN  0334018X

  • Access to Document (DOI)

• A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

  Uchida N., Mizuno Y., Seno S., Koyama Y., Takahashi T., Shibata H., Narumi S., Hasegawa T., Ishii T.

  Clinical Pediatric Endocrinology (Clinical Pediatric Endocrinology)  32 ( 1 ) 79 - 81 2023

  ISSN  09185739

  • Access to Document (DOI)

• Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report

  Yoshikawa H., Sato T., Ishikawa T., Ito J., Yamazaki F., Shima H., Honda M., Shibata H., Ishii T., Asanuma H., Shimada H., Hasegawa T.

  Pediatric Blood and Cancer (Pediatric Blood and Cancer)  69 ( 2 )  2022.02

  ISSN  15455009

  • Access to Document (DOI)

• Effectiveness of dihydrotestosterone ointment on glans penis size increment in a 5-alpha-reductase type 2 deficiency patient

  Sato T., Nakano S., Asanuma H., Ishii T., Hasegawa T.

  Pediatrics International (Pediatrics International)  64 ( 1 )  2022.01

  ISSN  13288067

  • Access to Document (DOI)

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Research Projects of Competitive Funds, etc. 【 Display / hide 】

Research Projects of Competitive Funds, etc. 【 Display / hide 】

• The role of ZNRF3/Znrf3 exon2 deletion on zonation and maintenance of the adrenal cortex

  2022.04

  -

  2025.03

  MEXT,JSPS, Grant-in-Aid for Scientific Research, 基盤研究(C), Principal investigator

• Identification of adrenogonadal progenitor cells in the gonads which can be reprogrammed into adrenal steroidogenic cells

  2019.04

  -

  2022.03

  MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Scientific Research (C), Principal investigator

• リポイド副腎過形成症モデルマウスと細胞株によるステロイドホルモン生合成機構の 解明

  2016.04

  -

  2019.03

  Grant-in-Aid for Scientific Research, Research grant, Principal investigator

• 次世代遺伝子解析装置を用いた46,XY性分化疾患の責任遺伝子-表現型の関連解析と新規責任遺伝子の同定

  2014.04

  -

  2015.03

  公益財団法人 川野小児医学奨学財団, 川野正登記念研究助成, Research grant, Principal investigator

• 内因性ステロイドホルモン産生制御機構下におけるsteroidogenic acute regulatory proteinの機能解析と先天性リポイド副腎過形成症の副腎・性腺リモデリングの病態解析

  2014.04

  -

  2015.03

  公益財団法人小児医学研究振興財団, 研究助成金, Research grant, Principal investigator

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Awards 【 Display / hide 】

Awards 【 Display / hide 】

• Young Investigator’s Award in 2nd Congress of Asian Society for Pediatric Research

  2006.12

• Travel Award in The Endocrine Society’s 88th annual meeting

  2006.06

• Clinical Research Award

  2022.11, Japanese Society for Pediatric Endocrinology

  Type of Award： Award from Japanese society, conference, symposium, etc.

• 日本小児科学会　学術研究賞

  2016.05, Japan Pediatric Society

• Science Award

  2014.09, Japanese Society for Pediatric Endocrinology

Courses Taught 【 Display / hide 】

Courses Taught 【 Display / hide 】

• LECTURE SERIES, PEDIATRICS

  2024

• CLINICAL CLERKSHIP IN PEDIATRICS

  2024

• ADVANCED CLINICAL CLERKSHIP IN PEDIATRICS

  2024

• LECTURE SERIES, PEDIATRICS

  2023

• CLINICAL CLERKSHIP IN PEDIATRICS

  2023

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Courses Previously Taught 【 Display / hide 】

Courses Previously Taught 【 Display / hide 】

• Growth, development, and maturation

  Keio University

  2018.04

  -

  2019.03

  , 

  Spring Semester, Lecture, Within own ｆaculty

• Neonatal mass screening

  Keio University

  2018.04

  -

  2019.03

  , 

  Spring Semester, Lecture, Within own ｆaculty

• Neonatal mass screening

  Keio University

  2017.04

  -

  2018.03

  , 

  Spring Semester, Lecture, Within own ｆaculty

• Neonatal mass screening

  Keio University

  2016.04

  -

  2017.03

  , 

  Spring Semester, Lecture, Within own ｆaculty

• Neonatal mass screening

  Keio University

  2015.04

  -

  2016.03

  , 

  Spring Semester, Lecture, Within own ｆaculty

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Memberships in Academic Societies 【 Display / hide 】

Memberships in Academic Societies 【 Display / hide 】

• The Japan Pediatric Society

  　

• The Japanese Society for Pediatric Endocrinology

  　

• The Japan Endocrine Society

  　

• The Endocrine Society

  　

• The Japan Society of Human Genetics

  　

Committee Experiences 【 Display / hide 】

Committee Experiences 【 Display / hide 】

• 2017.09

  -

  Present

  理事, 日本小児内分泌学会

• 2017.05

  -

  Present

  評議員, 日本生殖内分泌学会

• 2015.07

  -

  Present

  評議員, 日本人類遺伝学会

• 2014.07

  -

  Present

  成長ホルモン治療研究専門委員, 成長科学協会

• 2013.07

  -

  Present

  東京都地区委員, 成長科学協会

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