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

• Main Authors: Hosun Bae (Author), Min-Sun Kim (Author), Hyojung Park (Author), Ja-Hyun Jang (Author), Jong-Moon Choi (Author), Sae-Mi Lee (Author), Sung Yoon Cho (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...