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Two Girls With Adrenal Insufficiency and Failing Gonads

Congenital lipoid adrenal hyperplasia (CLAH) is a rare cause of adrenal insufficiency caused by mutations in the steroidogenic acute regulatory (StAR) gene. Patients classically present with adrenal crisis in early infancy and female external genitalia irrespective of chromosomal sex. We report 2 Ch...

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Detalles Bibliográficos
Autores principales: Poon, Sarah Wing-Yiu, Li, Raymond Hang-Wun, Tung, Joanna Yuet-Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580491/
https://www.ncbi.nlm.nih.gov/pubmed/37908564
http://dx.doi.org/10.1210/jcemcr/luad044