Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

• 主要な著者: Hae In Lee (著者), Ahreum Kwon (著者), Jung Hwan Suh (著者), Han Saem Choi (著者), Kyung Chul Song (著者), Hyun Wook Chae (著者), Ho-Seong Kim (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Pediatric Endocrinology, 2021-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic fe...