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Article

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.

Frontiers in endocrinology - 1 Jan 2022

Arriba María, Ezquieta Begoña

Abstract excerpt

Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases. CYP21A2 genotyping requires careful analyses that guaranty gene-specific PCR, accurate definition of pseudogene-gene chimeras, gene duplications and allele dropout avoidance. A small panel...

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Identifiers

PMID: 35422767
DOI: 10.3389/fendo.2022.834549
PMCID: PMC9001848

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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