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Article

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.

Clinical endocrinology - 1 Jun 1998

Rumsby G, Avey C J, Conway G S, Honour J W

Abstract excerpt

OBJECTIVE: To establish the type and frequency of mutations causing late onset 21-hydroxylase deficiency and associated clinical and biochemical phenotypes and to compare these findings to those from heterozygotes and homozygotes for classical 21-hydroxylase deficiency. DESIGN: Analysis of the 21-hydroxylase genes by DNA amplification and mutation detection. Measurement of serum 17-hydroxyprogesterone following...

Topics

17-alpha-Hydroxyprogesterone
Adolescent
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Adult
Age of Onset
Child
DNA
Female
Genotype
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 9713558
DOI: 10.1046/j.1365-2265.1998.00402.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-9713558-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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