Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

OBJECTIVE: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characte...

Descripción completa

Detalles Bibliográficos
Autores principales: Silva, Rita Santos, Carvalho, Berta, Pedro, Jorge, Castro-Correia, Cíntia, Carvalho, Davide, Carvalho, Filipa, Fontoura, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832901/
https://www.ncbi.nlm.nih.gov/pubmed/35289513
http://dx.doi.org/10.20945/2359-3997000000437

Ejemplares similares

Ejemplares similares