NR5A1 and disorder of sexual differentiation: Since these initial reports, an increasing number of heterozygous changes in NR5A1 have been identified in patients with 46,XY DSD phenotypes (Fig. 2) (Lin et al., 2007; Reuter et al., 2007; Coutant et al., 2007; Köhler et al., 2008; Lourenco et al., 2009; Tajima et al., 2009; Philibert et al., 2010; Warman et al., 2010).