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

ABSTRACT 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 t...

Szczegółowa specyfikacja

Opis bibliograficzny

Główni autorzy:	Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura
Format:	Artigo
Język:	Inglês
Wydane:	Sociedade Brasileira de Endocrinologia e Metabologia 2022-03-01
Seria:	Archives of Endocrinology and Metabolism
Hasła przedmiotowe:	Heterozygous carrier 17-hydroxyprogesterone precocious pubarche hyperandrogenism
Dostęp online:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000200168&tlng=en
Etykiety:	Dodaj etykietę Nie ma etykietki, Dołącz pierwszą etykiete!