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Article

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Jul 2020

Essawi Mona, Mazen Inas, Fawaz Lubna, Hassan Heba, ElBagoury Nagham, Peter Michael, Gaafar Khadiga, Amer Mahmoud, Nabil Wajeet, Hohmann Gisela, Soliman Hala, Sippell Wolfgang

Abstract excerpt

Objectives Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by defects in the CYP21A2 gene. We aimed to determine the prevalence of the most commonly reported mutations among 21-OHD Egyptian patients and correlate genotype with phenotype. Methods Molecular analysis of the CYP21A2 gene was performed for the detection of the six most...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

Share to Steroid 21-Hydroxylase

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Identifiers

PMID: 32614782
DOI: 10.1515/jpem-2019-0575

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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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