Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

doi:10.1007/s004390050586

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Article

Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.

Human genetics - 1 Nov 1997

Blanché H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanné-Chantelot C

Abstract excerpt

21-hydroxylase (21-OH) deficiency accounts for the vast majority of nonclassic (NC) forms of congenital adrenal hyperplasia (CAH), and is associated with symptoms detectable either in childhood (precocious puberty) or sometimes only later in adulthood (hirsutism, acne, amenorrhea). While the seve...

Topics

17-alpha-Hydroxyprogesterone
Adolescent
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Adult
Alleles
Base Sequence
Child
Cortodoxone
DNA Primers
Female
Genetic Counseling
Genetic Testing
Genotype
Heterozygote
Hirsutism
Homozygote
Humans

Source

Open in PubMed

Identifiers

PMID: 9385370
DOI: 10.1007/s004390050586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9385370-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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