<i>Background/Aim:</i> To determine the mutations in the <i>CYP21A2</i> gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. <i>Subjects and Methods:</i> Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the <i>CYP21A2</i> gene in 32 CAH patients. <i>Results:</i> The most frequent genetic defect in the classic salt-wasting and simple virilizing forms was the IVS2-13A/C>G (55%) mutation, followed by Large lesion (20%) and in the non-classical form, the p.V281L (79.5%). Genotypes were categorized in 4 mutation groups (null, A, B and C). All 3 patients in the null group manifested the salt-wasting form and all 6 patients in mutation group A presented with the classical form. One patient in group B had the simple virilizing form and 22 patients in group C exhibited the non-classical form. <i>Conclusion:</i> The spectrum of mutations of the <i>CYP21A2</i> gene in our population is comparable to the most common reported in similar ethnic groups. The knowledge of the ethnic specificity of the <i>CYP21A2</i> mutations represents a valuable diagnostic tool for all forms of CAH.