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ODP375 Absence of Virilization With Completely Normal Phenotype in a Newborn Female With Salt-Wasting Classical CAH

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the disruption of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form and is caused by the mutations in the 21-hydroxylase (CYP21A2) gene. Deficiency in the 21-hydroxylase enzyme...

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Detalles Bibliográficos
Autores principales: Diramerian, Linda Garabet, Russell, Bianca, Chiu, Harvey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625450/
http://dx.doi.org/10.1210/jendso/bvac150.1240