Mutations in NR5A1 (e.g., 3-bp deletions or missense mutations like p. Arg92Trp) frequently occur in the DBD or LBD, leading to 46, XY DSD (gonadal dysgenesis, hypospadias, adrenal insufficiency in some cases) or 46, XX testicular or ovotesticular DSD. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.