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Article

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.

Clinics in laboratory medicine - 1 Mar 1996

Wedell A

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency results in deficiency of cortisol and aldosterone and overproduction of androgens. The 21-hydroxylase locus has a complicated structure, with a highly homologous pseudogene (CYP21P) and an active gene (CYP21) in tandem repeats, a high degree of interindividual variation in gene copy numbers, and exchange of sequences between CYP21P and CYP21. Nine...

Topics

Adrenal Hyperplasia, Congenital
Base Sequence
Chromosomes, Human, Pair 6
Genetic Markers
Genotype
Humans
Major Histocompatibility Complex
Mutation
Phenotype
Polymerase Chain Reaction
Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 8867587

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8867587-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.PMID 8867587Read ↗

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