SRD5A2 deficiency is a rare disease with autosomal recessive inheritance.<h4>Aim</h4>To give a clinical and molecular genetic characterization of 14 new cases with confirmed molecular diagnosis of SRD5A2 deficiency, as well as 4 cases of DSD 46,XY, where monoallelic changes in the SRD5A2 gene were detected.<h4>Materials and methods</h4>The study included 310 patients with DSD 46,XY. The gene discussed is SRD5A2; the disease is disorder of sexual differentiation.