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

• Main Authors: Hae In Lee (Author), Ahreum Kwon (Author), Jung Hwan Suh (Author), Han Saem Choi (Author), Kyung Chul Song (Author), Hyun Wook Chae (Author), Ho-Seong Kim (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...