In the 46,XY DSD group, the most frequent condition was severe hypospadias, followed by patients with no genetic diagnosis and different disorders of androgen synthesis or action (CAIS/PAIS, 5α-reductase deficiency, SF1 deficiency, 17 beta HSD3 deficiency, SRY variant, and CAH due to HSD3β2 deficiency). Here, HSD3B2 is linked to disorder of sexual differentiation.