NR5A1 and disorder of sexual differentiation: Ten novel heterozygous NR5A1 mutations were identified in 46,XY DSD patients (Fig. 1), including five nonsynonymous variants (p.Gly26Glu, p.Thr29Arg, p.Trp302Cys, p.Ala340Val, p.Leu358Pro), four stop‐gain variants (p.Tyr211*, p.Cys247*, p.Tyr404*, p.Cys412*), and one frameshift variant (p.Glu395del) (Table 3, Fig. 1).