[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

doi:10.1016/j.lpm.2013.10.006

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Article

[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

Presse medicale (Paris, France : 1983) - 1 Apr 2014

Bachelot Anne, Touraine Philippe

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. The clinical phenotype is typically classified as classic, the severe form, or nonclassic (NCF), the mild or late-onset form. Classic CAH is a life-long chronic disorder. In childhood,...

Topics

Adrenal Hyperplasia, Congenital
Adult
Age Factors
Androgens
Chromosome Aberrations
Cooperative Behavior
DNA Mutational Analysis
Female
Genes, Recessive
Genetic Carrier Screening
Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Health Status

Humans

Infant, Newborn

Infertility, Female

Interdisciplinary Communication

Pregnancy

Source

Open in PubMed

Identifiers

PMID: 24630263
DOI: 10.1016/j.lpm.2013.10.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24630263-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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