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Article

The role of heterozygosity for CYP21 in the polycystic ovary syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Witchel S F, Aston C E

Abstract excerpt

The phenotypic heterogeneity recognized in congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency appears to extend to 21hydroxylase (CYP21) mutation carriers. To begin the search for modifying loci responsible for this phenotypic heterogeneity, we performed CYP21 genotype analysis and assays for three candidate modifier loci on genomic DNA samples obtained from 30 adolescent girls with...

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PMID: 11117678

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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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The role of heterozygosity for CYP21 in the polycystic ovary syndrome.PMID 11117678Read ↗

Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.Semantic proximity Read ↗

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Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.Semantic proximity Read ↗

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

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.Semantic proximity Read ↗

Variant-specific contributions of CYP21A2 and CYP11B1 to the clinical and hormonal heterogeneity of polyendocrine metabolic ovarian syndrome phenotypes.Semantic proximity Read ↗

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

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The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.Semantic proximity Read ↗

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