Ovotesticular disorder of sexual development with rare karyotype

Ovotesticular disorder of sexual development (OT-DSD) is a rare disorder of sexual differentiation. It is associated with variable genotype of which the  most common karyotype  is 46,XX. A 2 year-old boy presented with  severe penoscrotal hypospadias and unilateral right side  cryptorchidism. The right gonad was atrophic , present in the right inguinal region and showed presence of ovarian tissue with mature ovarian follicles and testicular tissue with distinct seminiferous tubules in the same gonad (ovotestis) on histopathology and a 45,XO/46,XY karyotype.