In the present study, among 51 families evaluated, 7 (13.7%) showed homozygous or compound heterozygous mutations in SRD5A2 gene, confirming the diagnosis of 5α-reductase type 2 deficiency, 5 (9.8%) showed hemizygous mutation in AR gene, confirming the diagnosis of PAIS, and the remaining 39 (76.4%) cases showed normal molecular analysis of SRD5A2 and AR genes. The gene discussed is AR; the disease is partial androgen insensitivity syndrome.