Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

doi:10.1210/jc.2012-3343

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Article

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

The Journal of clinical endocrinology and metabolism - 1 Feb 2013

Krone Nils, Rose Ian T, Willis Debbie S, Hodson James, Wild Sarah H, Doherty Emma J, Hahner Stefanie, Parajes Silvia, Stimson Roland H, Han Thang S, Carroll Paul V, Conway Gerry S, Walker Brian R, MacDonald Fiona, Ross Richard J, Arlt Wiebke

Abstract excerpt

CONTEXT: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking. OBJECTIVE: The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Aged
Alleles
Cohort Studies
Female
Genetic Association Studies
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Phenotype

Steroid 21-Hydroxylase

United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 23337727
DOI: 10.1210/jc.2012-3343
PMCID: PMC3651585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-23337727-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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