NR5A1 and disorder of sexual differentiation: In the last few years, a novel and recurrent heterozygous missense variant, c.274C > T (p.Arg92Trp) in exon 4 of NR5A1 was identified in SRY-negative 46,XX testicular or ovotesticular DSD patients [143,144,145,146,147,148,149,150] (Table 4).