Patient Registry for Congenital
Lipoid Adrenal Hyperplasia

Japan Agency for Medical Research and Development (AMED) Practical Research Project for Rare/Intractable Diseases

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About the Research Team

Research Team Members

Principal Investigator
Tomohiro Ishii Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo
Co-Investigators
Naoko Amano Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo
Takeshi Iwasa Department of Obstetrics and Gynecology, Tokushima University, Tokushima
Masanobu Kawai Department of Molecular Genetics and Endocrinology, Research Institute, Osaka Women’s and Children’s Hospital Research Institute, Osaka
Kenichiro Kiuchi Department of Nephrology, Endocrinology, and Metabolism, Keio University School of Medicine, Tokyo
Yoshitaka Kojima Department of Urology, Fukushima Medical University School of Medicine, Fukushima
Hirotaka Shibata Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita
Yasuko Fujisawa Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka

Research Publications by Team Members on Congenital Lipoid Adrenal Hyperplasia

  1. Ishii T, Kashimada K, Kawai M, Itonaga T, Iwasa T, Utsunomiya A, Ozaki K, Kawamura K, Kanno J, Koh J, Kojima Y, Sasaki S, Sato H, Shiraishi K, Naiki Y, Nishiyama M, Hamajima T, Fujisawa Y, Makita N, Matsui K, Yanai T, Horikawa R, Ogata T. Clinical Practice Guidelines for the Management of Differences of Sex Development in Japan. Endocrine J. 2025 (in press).
  2. Ishii T, Kashimada K, Kawai M, Itonaga T, Iwasa T, Utsunomiya A, Ozaki K, Kawamura K, Kanno J, Koh J, Kojima Y, Sasaki S, Sato H, Shiraishi K, Naiki Y, Nishiyama M, Hamajima T, Fujisawa Y, Makita N, Matsui K, Yanai T, Horikawa R, Ogata T. Clinical Practice Guidelines for the Management of Differences of Sex Development in Japan. Clin Pediatr Endocrinol. 2025 (in press).
  3. Hayashi M, Narumi S, Sato T, Amano N, Suwanai AS, Haruna H, Muroya K, Adachi M, Asanuma H, Ohashi H, Ishii T, Hasegawa T. Genetic and clinical characteristics of 185 Japanese children with 46,XY differences of sex development. J Clin Endocrinol Metab 2025; 110: e2682-e2690.
  4. Ishii T. Psychiatric aspects of differences of sex development: Uncertainty in our knowledge. J Clin Endocrinol Metab 2025; 110: e3526-3527.
  5. Sato T, Narumi S, Sakuma T, Shimura K, Ichihashi Y, Yamamoto T, Ishii T, Hasegawa T. Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR. J Mol Endocrinol 2024 ;73: e240009
  6. akahashi F, Baba T, Christianto A, Yanai S, Lee-Okada H-C, Ishiwata K, Nakabatashi K, Hata K, Ishii T, Hasegawa T, Yokomizo T, Choi MH, Morohashi K. Development of sexual dimorphism of skeletal muscles through the adrenal cortex, caused by androgen-induced global gene suppression. Cell Rep 2024; 43: 113715.
  7. 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. Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study. J Clin Endocrinol Metab 2024; 109: 31602-e1607
  8. Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: criteria for nonclassic form revisited. J Clin Endocrinol Metab 2020; 105: dgaa557
  9. Matsuoka K, Sato Y, Hoshi S, Koguchi T, Ogawa S, Ishii T, Haga N, Hasegawa T, Kojima Y Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells. IJU Case Rep 2020; 14: 53-56
  10. Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and adult testicular functions in nonclassic lipoid congenital adrenal hyperplasia: a case series and review. J Endocr Soc 2019; 3: 1367–1374
  11. Mizuno Y, Ishii T, Hasegawa T. In Vivo Verification of the Pathophysiology of Lipoid Congenital Adrenal Hyperplasia in the Adrenal Cortex. Endocrinology 2019; 160: 331-338
  12. Hatabu N, Amano N, Mori J, Hasegawa Y, Matsuura H, Sumitomo N, Nishizawa K, Suzuki M, Katakura S, Kanamoto N, Kamimaki T, Ishii T, Hasegawa T. Pubertal development and pregnancy outcomes in 46,XX patients with nonclassic lipoid congenital adrenal hyperplasia. J Cin Endocrinol Metab 2019; 104: 1866-1870
  13. Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol 2017; 177: 187–194
  14. Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T. Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia. Eur J Endocrinol 2016; 175: 127-132
  15. Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ. The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function. Mol Endocrinol 2014; 28: 1088-1096
  16. Ishii T, Mitsui T, Suzuki S, Matsuzaki Y, Hasegawa T. A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein. Endocrinology 2012; 153: 2714-2723
  17. Sasaki G, Ishii T, Jeyasuria P, Jo Y, Bahat A, Orly J, Hasegawa T, Parker KL. Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo. Mol Endocrinol 2008; 22: 951-964
  18. King SR, Ginsberg SD, Ishii T, Smith RG, Parker KL, Lamb DJ. The Steroidogenic Acute Regulatory Protein Is Expressed in Steroidogenic Cells of the Day-Old Brain. Endocrinology 2004; 145: 4775-4780.
  19. King SR, Manna PR, Ishii T, Syapin PJ, Ginsberg SD, Wilson K, Walsh LP, Parker KL, Stocco DM, Smith RG, Lamb DJ. An essential component in steroid synthesis, the steroidogenic acute regulatory protein, is expressed in discrete regions of the brain. J Neurosci 2002; 22: 10613-10620.

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