Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylasedeficiency, which is the most frequent cause of congenital adrenalhyperplasia (CAH). Twenty nine CAH cases, their family members andtwenty control subjects were investigated to identify the mutation spectrumof the CYP21A2 gene.Objective: To determine the prevalence of common point mutations anddeletion in CYP21A2 gene in a group of Egyptian patients with CAH.Methods:a. Allele specific PCR for g.659A/C>G, p.I172N variants and the 8 base pairdeletion in exon 3.b. Real-time, quantitative PCR assay was used to detect deletion of thesteroid 21-hydroxylase gene (CYP21A2).Results: Mutational analysis of CYP21A2 gene revealed that I2splice/I172Nrepresented 58.6% of cases, I2splice/ I2splice 13.8%, 8 bpΔ/8bpΔ 6.9% andgene duplication 3.4%.Conclusion: The heterogenous molecular defects underlying salt wasting(SW) cases among a relatively limited number of Egyptian CAH patientscalls for more extensive molecular workup on a larger sample size.