DMRT1 and disorder of sexual differentiation: In humans, mutations and/or deletions in the short arm of Chromosome 9, where DMRT1 is located, can result in varying degrees of sex reversal (Hoo et al., 1989; Bennett et al., 1993; Vinci et al., 2007) and 46,XY individuals with DMRT1 mutations may present with DSD or features of TDS (Murphy et al., 2015).