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[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].

Acta medica portuguesa - 1 Jan 2000

Mendes Catarina, Vaz Matos Inês, Ribeiro Luís, Oliveira Maria João, Cardoso Helena, Borges Teresa

Abstract excerpt

INTRODUCTION: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is one of the most frequent inborn conditions. It is caused by distinct mutations in the CYP21A2 gene and in the majority of cases the disease's severity correlates with CYP21A2 allelic variation Our aim was to describe the mutational spectrum of CYP21A2 and evaluate genotype-phenotype correlation in a cohort of portuguese patients with...

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PMID: 25817499

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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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