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Steroid 21-hydroxylase deficiency (21-OHD) is the common type of congenital adrenal hyperplasia (CAH) caused by defects in the CYP21A2 gene, as an autosomal recessive disease, genetic analysis has a prominent role in its diagnosis. Our objectives were to determine the prevalence of common mutations in a group of Egyptian patients with 21-OHD and their families using rapid methods, and also to detect the rate of deletion, duplication and conversions in CYP21A2 gene.

Rapid detection methods were used: allele-specific PCR for c.293-13A>G (g.659A>G), c.518T>A (p.I172N) variants and c.332_339del (8-bp deletion in exon 3), and real-time, quantitative PCR assay was used to detect deletion in the CYP21A2 gene. 29 Egyptian patients, 38 family members, and 20 healthy controls were all included in the study …