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Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies
Abdulmoein Eid Al-Agha1, Shatha Jafar Abukammas2
1Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Abstract:
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 consanguinity rates. Newborn screening has enhanced early detection, enabling timely initiation of glucocorticoid and mineralocorticoid therapy. However, long-term challenges include poor adherence, growth abnormalities, obesity, and iatrogenic Cushingoid features. Data on genotype phenotype correlation and long-term outcomes remain limited. Establishing national registries, improving access to genetic counseling, and developing individualized treatment protocols are essential to optimize lifelong outcomes.
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