In contrast to the relatively small number of NR5A1 changes reported in association with adrenal failure, heterozygous NR5A1 changes are emerging as a relatively frequent finding in patients with 46,XY disorders of sex development (46,XY DSD) but without adrenal insufficiency (Fig. 2) (Lin and Achermann, 2008; Köhler et al., 2009). Here, NR5A1 is linked to disorder of sexual differentiation.