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Article

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.

Archives of endocrinology and metabolism - 30 Mar 2023

Hosomi Silvério S, Salles Igor C, Bachega Tânia A S S

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, considering the miscegenation of the Brazilian population, it is important to determine a mutations panel to optimise the molecular diagnosis. The objective was to review the...

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Identifiers

PMID: 37011374
DOI: 10.20945/2359-3997000000593
PMCID: PMC10247253

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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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