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

BACKGROUND/OBJECTIVE: Nonclassic congenital adrenal hyperplasia (NCCAH) may be overlooked or mistaken for polycystic ovarian syndrome. Unlike congenital adrenal hyperplasia (CAH), the enzymatic activities of 21-hydroxylase or 11β-hydroxylase in NCCAH are not completely lost. In this case, NCCAH pres...

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Detalles Bibliográficos
Autores principales: Frontera, Eric D., Brown, Joshua J., Ghareebian, Hagop, Mariash, Cary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701904/
https://www.ncbi.nlm.nih.gov/pubmed/36447832
http://dx.doi.org/10.1016/j.aace.2022.10.003