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Article

Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.

The Journal of clinical endocrinology and metabolism - 1 Feb 1997

Knochenhauer E S, Cortet-Rudelli C, Cunnigham R D, Conway-Myers B A, Dewailly D, Azziz R

Abstract excerpt

A deficiency of 21-hydroxylase activity is one of the most commonly inherited genetic disorders in man, with heterozygosity for CYP21 mutations affecting approximately 1 in 60 of the non-Jewish Caucasian population. We have hypothesized that heterozygosity for CYP21 mutations in women increases their risk of developing clinically evident hyperandrogenism, and that this risk is related to the severity of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9024240
DOI: 10.1210/jcem.82.2.3759

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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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Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.PMID 9024240Read ↗

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Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

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Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.Semantic proximity Read ↗

The frequency of CYP 21 gene mutations in Turkish women with hyperandrogenism.Semantic proximity Read ↗

Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).Semantic proximity Read ↗

A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype.Semantic proximity Read ↗

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