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

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...

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Bibliographic Details
Main Authors: Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2020-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-2020-25-1-46.pdf