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Article

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.

Journal of endocrinological investigation - 1 Feb 2022

Mahmoud R A A, Amr N H, Toaima N N, Kamal T M, Elsedfy H H

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to autosomal recessive 21-hydroxylase deficiency (21-OHD) is caused by defects in the CYP21 (CYP21A2) gene. Several mutations have been identified in the CYP21 (CYP21A2) gene of patients with 21-OHD. We aimed at determining the frequency of these mutations among a group of Egyptian patients and studying the genotype-phenotype correlation. METHODS: Forty-seven...

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Identifiers

PMID: 34341969
DOI: 10.1007/s40618-021-01648-8

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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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