Institute of Science Tokyo · Graduate School of Medical and Dental Sciences

Research keywordsnewborn screening・21-hydroxylase deficiency・pediatric endocrinology・congenital hyperinsulinism・HYAL2 deficiency・WT1 disorders of sex development・mass spectrometry screening・hepatic steatosis after transplantation

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• Nakatani H, Watanabe K, Tsuji-Hosokawa A, Sutani A, Saito Y, Kirino S, Yamano H, Orimoto R, Gau M, Yogi A, Ishige N, Tajima T, Hasegawa T, Takasawa K, Takagi M, Kashimada K. A Two-Step LC-MS/MS method to differentiate 21OHD and PORD in Screen-Positive newborns. Endocrine. 2026.03; 91 (1): ( PubMed , DOI )2026
• Shirakawa S, Yamano H, Iemura R, Sutani A, Adachi E, Kashimada K, Takasawa K. Classic 21-hydroxylase deficiency in opposite-sex twins. Pediatrics international : official journal of the Japan Pediatric Society. 2025.01; 67 (1): e70058. ( PubMed , DOI )2025
• Gau M, Iemura R, Orimoto R, Adachi E, Saito Y, Yamano H, Nakatani H, Kirino S, Kuno H, Moriyama K, Yamaguchi Y, Oitani Y, Sugie M, Mizuno T, Ishii T, Yoshida M, Kashimada K, Takasawa K. Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature. Endocrine journal. 2025.11; 73 (3): 483-493. ( PubMed , DOI )2025
• 齋藤洋子, 我有茉希, 家村綾正, 折本竜太, 山野春樹, 中谷久恵, 桐野玄, 安達恵利子, 鹿島田健一, 高澤啓. Xp21欠失症候群の多様な臨床像 日本内分泌学会雑誌. 2025.02; 100 (5): 1496. ( 医中誌 )2025

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