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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Detalles Bibliográficos
Autores principales: Bae, Hosun, Kim, Min-Sun, Park, Hyojung, Jang, Ja-Hyun, Choi, Jong-Moon, Lee, Sae-Mi, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136505/
https://www.ncbi.nlm.nih.gov/pubmed/32252217
http://dx.doi.org/10.6065/apem.2020.25.1.46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136505/
https://www.ncbi.nlm.nih.gov/pubmed/32252217
http://dx.doi.org/10.6065/apem.2020.25.1.46

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