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Article

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.

Annals of the New York Academy of Sciences - 1 Aug 2017

Gurgov Semyon, Bernabé Kerlly J, Stites John, Cunniff Christopher M, Lin-Su Karen, Felsen Diane, New Maria I, Poppas Dix P

Abstract excerpt

Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into...

Topics

Adrenal Hyperplasia, Congenital
Female
Genotype
Humans
Mutation
Phenotype
Virilism

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28640966
DOI: 10.1111/nyas.13370

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-28640966-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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