Mutations/deletions in the short arm of Chromosome 9, where DMRT1 is located is strongly associated with DSD and sex-reversal in humans (Raymond et al., 1999b; Ottolenghi et al., 2000; Ounap et al., 2004; Vinci et al., 2007) and a recent study has reported a patient with XY sex-reversal associated with a point mutation in DMRT1 (Murphy et al., 2015). This evidence concerns the gene DMRT1 and disorder of sexual differentiation.