Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies.
PMID 41807209 | DOI 10.1016/j.jnma.2026.02.006 · Journal of the National Medical Association · 2026
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP21A2 | “Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “However, long-term challenges include poor adherence, growth abnormalities, obesity, and iatrogenic Cushingoid features.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies. 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.” | 0.95 | saudi_context_rules_v1 |