先天性リポイド副腎過形成症の
患者レジストリのホームページ

日本医療研究開発機構(AMED)難治性疾患実用化研究事業
先天性リポイド副腎過形成症の診療ガイドライン作成に向けた
患者レジストリ構築とリアルワールドエビデンス創出研究

MENU

研究班の紹介

研究班のメンバー

研究開発代表者
石井 智弘 慶應義塾大学・医学部・小児科
研究開発分担者
天野 直子 東京都立小児総合医療センター・内分泌・代謝科
岩佐 武 徳島大学・大学院医歯薬学研究部産科婦人科学分野
川井 正信 大阪母子医療センター・研究所分子遺伝・内分泌代謝研究部門/消化器・内分泌科
木内 謙一郎 慶應義塾大学・医学部・腎臓内分泌代謝内科
小島 祥敬 福島県立医科大学・医学部・泌尿器科学講座
柴田 洋孝 大分大学・医学部・内分泌代謝・膠原病・腎臓内科学講座
藤澤 泰子 浜松医科大学・医学部附属病院・小児科

研究班メンバーによる先天性リポイド副腎過形成症に関する研究業績

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. Ishii T, Hasegawa T, Pai CI, Yvgi-Ohana N, Timberg R, Zhao L, Majdic G, Chung BC, Orly J, Parker KL. The roles of circulating high density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein. Mol Endocrinol 2002; 16: 2297-2309.

Back to Top