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Article

Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation.

American journal of obstetrics and gynecology - 1 Mar 1995

Azziz R, Owerbach D

Abstract excerpt

OBJECTIVE: Our purpose was to establish the incidence of point mutations of the 21-hydroxylase gene (CYP21) in hyperandrogenic women with and without a 17-hydroxyprogesterone response to corticotropin stimulation above normal but below those levels associated with nonclassic adrenal hyperplasia. STUDY DESIGN: We studied 22 patients with hirsutism or hyperandrogenic oligoovulation: eight with an exaggerated net...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Glands
Adult
Case-Control Studies
Cosyntropin
Female
Heterozygote
Hirsutism
Humans
Hydroxyprogesterones
Hyperandrogenism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oligomenorrhea

Peptide Fragments

Point Mutation

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 7892885
DOI: 10.1016/0002-9378(95)90021-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7892885-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation.PMID 7892885Read ↗

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

Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.Semantic proximity Read ↗

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

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.Semantic proximity Read ↗

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Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.Semantic proximity Read ↗

Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.Semantic proximity Read ↗

[Hirsutism. Two familial cases of 21-hydroxylase deficiency].Semantic proximity Read ↗

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Decreased cortisol secretion in nonclassical 21-hydroxylase deficiency before and during glucocorticoid therapy.Semantic proximity Read ↗

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.Semantic proximity Read ↗

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

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