PSAT047 Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

BACKGROUND: Congenital Adrenal Hyperplasia (CAH) is classically attributed to defective 21-hydroxylase, caused by mutations in CYP21A2, impairing the production of mineralocorticoids and glucocorticoids and subsequently shifting steroidogenesis towards androgen production. This produces a classic co...

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Detalles Bibliográficos
Autores principales: Frontera, Eric, Brown, Joshua J, Ghareebian, Hagop, Mariash, Cary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Genetics & Development
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625241/
http://dx.doi.org/10.1210/jendso/bvac150.959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625241/
http://dx.doi.org/10.1210/jendso/bvac150.959

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