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Article

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

Archives of endocrinology and metabolism - 28 Apr 2022

Silva Rita Santos, Carvalho Berta, Pedro Jorge, Castro-Correia Cíntia, Carvalho Davide, Carvalho Filipa, Fontoura Manuel

Abstract excerpt

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 characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due...

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Share to 17-alpha-Hydroxyprogesterone
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35289513
DOI: 10.20945/2359-3997000000437
PMCID: PMC9832901

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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