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Article

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.

Journal of endocrinological investigation - 1 Jan 2021

Elmougy F, Elsharkawy M, Hafez M, Atty S A, Baz H, Ibrahim A, Soliman H, Ekladious S, Abdullatif M, Thabet G, Rady N, Afif A, Tolba A, Zaki Z, Musa N

Abstract excerpt

OBJECTIVES: The prevalence of CAH in Egypt is reported to be ten times more than that of the worldwide prevalence. The study aimed at genetic screening of children diagnosed with 21-alpha hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH). In addition, the study offers a rapid and easy guide for clinical reporting of common mutations for endocrinologists. METHODS: A cohort of 174 unrelated Egyptian...

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Identifiers

PMID: 32358738
DOI: 10.1007/s40618-020-01271-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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