Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

• المؤلفون الرئيسيون: Hosun Bae (مؤلف), Min-Sun Kim (مؤلف), Hyojung Park (مؤلف), Ja-Hyun Jang (مؤلف), Jong-Moon Choi (مؤلف), Sae-Mi Lee (مؤلف), Sung Yoon Cho (مؤلف), Dong-Kyu Jin (مؤلف)
• التنسيق: كتاب
• منشور في: Korean Society of Pediatric Endocrinology, 2020-03-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the disease manifests with electrolyte imbalances and hype...