Research field (2)：
Fetal medicine/Pediatrics
, Metabolism and endocrinology
Research keywords (4)：
Adrenal insufficiency
, Adrenal cortex
, Disorders of sex development
, steroid hormone
Research theme for competitive and other funds (17)：
2022 - 2025 The role of ZNRF3/Znrf3 exon2 deletion on zonation and maintenance of the adrenal cortex
2021 - 2024 遺伝子改変マウスを用いたMIRAGE症候群における副腎機能低下症の病態解明
2019 - 2022 Identification of adrenogonadal progenitor cells in the gonads which can be reprogrammed into adrenal steroidogenic cells
2018 - 2021 The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing
2016 - 2019 Elucidation of the pathophysiology of steroid hormone biosynthesis in lipoid congenital adrenal hyperplasia by establishing a mouse or cell line model
2015 - 2018 Model cell-line and model animals of MIRAGE syndrome
2014 - 2015 In vivo functional analysis of mutant steroidogenic acute regulatory proteins and remodeling of adrenal glands and gonads in congenital lipoid adrenal hyperplasia
2014 - 2015 Elucidation of genotype-phenotype association and identification of the novel responsible genes in patients with 46,XY disorders of sex development
2011 - 2014 Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein
2011 - 2013 Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein
2008 - 2011 The role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by BAC transgenesis in vivo
2008 - 2010 The role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by BAC transgenesis in vivo
2008 - 2009 Elucidation of the mechanism of cholesterol transport into the inner mitochondrial membrane during steroidogenesis using Star knockout mice
2006 - 2008 Targeted expression of enhanced green fluorescent protein to steroidogenic cells expressing steroidogenic acute regulatory protein by bacterial artificial chromosome transgenesis in vivo
2006 - 2007 Targeted expression of enhanced green fluorescent protein to steroidogenic cells expressing steroidogenic acute regulatory protein by bacterial artificial chromosome transgenesis in vivo
1997 - 1999 Genotype-phenotype association in Japanese patients with hypochondroplasia
1997 - 1998 Hypochondroplasiaの遺伝子型と表現型の相関に関する検討
Show all
Papers (196)：
Tomohiro Ishii. Psychiatric Aspects of Differences of Sex Development: Uncertainty in Our Knowledge. The Journal of Clinical Endocrinology & Metabolism. 2024
Takeshi Sato, Satoshi Narumi, Tetsushi Sakuma, Kazuhiro Shimura, Yosuke Ichihashi, Takashi Yamamoto, Tomohiro Ishii, Tomonobu Hasegawa. Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR. Journal of Molecular Endocrinology. 2024
Naoko Amano, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa. Response to Letter to the Editor From Janot et al: “Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia”. The Journal of Clinical Endocrinology & Metabolism. 2024
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, et al. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics. 2024
内田登, 内田登, 石井智弘, 西本紘嗣郎, 小原收, 柴田浩憲, 柴田浩憲, 石井加奈子, 石井加奈子, 中野靖浩, et al. Genetic and clinical features of childhood-onset familial aldosteronism in Japan. 日本小児内分泌学会学術集会プログラム・抄録集. 2023. 56th
Cellular Endocrinology in Health and Disease
Academic Press 2021
Cellular endocrinology in health and disease
Academic Press 2014
Education (1)：
1986 - 1992 Keio University School of Medicine
Professional career (1)：
医学博士 (慶應義塾大学)
Work history (7)：
2017/02/01 - Keio University School of Medicine Department of Pediatrics Associate Professor
2013/05 - 2017/01/31 Keio University School of Medicine Department of Pediatrics Assistant professor
2005/04 - 2013/04 Keio University School of Medicine Department of Pediatrics Instructor
2000/07 - 2005/03 University of Texas Southwestern Medical Center Division of Endocrinology and Metabolism, Department of internal medicine Postdoctoral research fellow
1998/08 - 2000/06 Keio University School of Medicine Department of Pediatrics Instructor
1996/07 - 1998/07 Ota General Hospital Department of Pediatrics Residenct (Pediatrics)
1992/04 - 1994/06 Keio University School of Medicine, Department of Pediatrics Resident (Pediatrics)
Show all
Committee career (14)：
2022/04 - 現在 Japan Pediatric Society Delegate
2020/04 - 現在 the Japanese Society of Reproductive Endocrinology Board member
2017/10 - 現在 the Japanese Society for Pediatric Endocrinology Board member
2017/05 - 現在 the Japanese Society of Reproductive Endocrinology Councilor
2015/07 - 現在 the Japan Society of Human Genetics Councilor
2014/07 - 現在 成長科学協会 成長ホルモン治療研究専門委員
2013/07 - 現在 成長科学協会 東京都地区委員
2011/04 - 現在 日本小児内分泌学会 性分化・副腎疾患委員
2011/04 - 現在 日本小児内分泌学会 渉外委員
2009/04 - 現在 the Japan Endocrine Society Delegate
2008/04 - 現在 the Japanese Society for Pediatric Endocrinology Councilor
2017/10 - 2021/09 日本小児内分泌学会 用語委員会
2011/04 - 2017/09 日本小児内分泌学会 マススクリーニング委員
2012/04 - 2016/03 日本内分泌学会 内分泌代謝科専門医委員
Show all
Awards (5)：
2022/11 - Japanese Society for Pediatric Endocrinology Clinical Research Award in the Japanese Society for Pediatric Endocrinology Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited.
2016/05 - Japan Pediatric Society Science Award
2014/09 - Japanese Society for Pediatric Endocrinology Science Award
2006/12/01 - Young Investigator’s Award in 2nd Congress of Asian Society for Pediatric Research
2006/06/01 - Travel Award in The Endocrine Society’s 88th annual meeting
Association Membership(s) (5)：
The Japan Society of Human Genetics
, The Endocrine Society
, The Japan Endocrine Society
, The Japanese Society for Pediatric Endocrinology
, The Japan Pediatric Society
