Recently, five reports have described a recurrent heterozygous variant in the Nuclear Receptor Subfamily 5 Group A Member 1 (NR5A1) gene (c.274C>T; p.Arg92Trp) in 12 cases of 46,XX (ovo)testicular DSD (Baetens et al., 2017; Bashamboo et al., 2016; Domenice et al., 2016; Igarashi et al., 2017; Takasawa et al., 2017), although the underlying mechanism for how this NR5A1 variant causes sex reversal in these cases is still unclear. The gene discussed is NR5A1; the disease is disorder of sexual differentiation.