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Article

How can molecular biology contribute to the management of congenital adrenal hyperplasia?

Hormone research - 1 Jan 2000

Ritzén E M, Lajic S, Wedell A

Abstract excerpt

The most common form of congenital adrenal hyperplasia is due to a deficiency of 21-hydroxylase (21OHD) activity and is caused by a mutation in the CYP21 gene. By genotyping patients, new and important information can be gained, including presence or absence of 21OHD in borderline cases, determining the severity of disease and identifying heterozygote carriers. Current management of patients with 21OHD involves...

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Identifiers

PMID: 10895040
DOI: 10.1159/000053202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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