46, XX Testicular DSD

46, XX testicular DSD is the presence of testes in an individual with 46, XX karyotype. In over 80%, the condition results from translocation of SRY to X chromosome during paternal meiosis. The molecular defect in the SRY negative cases can be highly variable ranging from a duplication of pro-testicular genes (such as SOX9 or SOX3), deletion of pro-ovarian genes (such as WNT4 or RSPO1), to defects in genes such as NR5A1 and WT1. The affected individuals may have typically male genitalia, with only small testes, presenting in adolescence or adulthood, or may have atypical genitalia with hypospadias or cryptorchidism presenting in neonatal period or infancy. Azoospermia and infertility are seen in all. We describe this rare entity with case illustrations and an algorithmic approach to diagnosis.