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Article

Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies.

Journal of the National Medical Association - 1 Jun 2026

Al-Agha Abdulmoein Eid, Abukammas Shatha Jafar

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. This review summarizes the epidemiology, genetic spectrum, clinical presentation, and management of CAH in Saudi Arabia. Literature review indicates that the incidence of CAH in the Kingdom is substantially higher than global estimates, mainly due to high...

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Identifiers

PMID: 41807209
DOI: 10.1016/j.jnma.2026.02.006

Genes

CYP21A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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