Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

• Những tác giả chính: Ja Hye Kim (Tác giả), Gu-Hwan Kim (Tác giả), Han-Wook Yoo (Tác giả), Jin-Ho Choi (Tác giả)
• Định dạng: Sách
• Được phát hành: Korean Society of Pediatric Endocrinology, 2023-06-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic...