Deletions or translocations of SRY cause disorders of sex development (DSD) with dysgenic gonads in mutated individuals: Affected patients may have external genitalia that are not clearly male or female (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs, either in karyotypically male (XY) individuals (in case of SRY absence/total impairment) or in karyotypically female (XX) patients (in case of SRY translocation on the X chromosome or on the autosomes). The gene discussed is SRY; the disease is disorder of sexual differentiation.