NR5A1 and disorder of sexual differentiation: As an explanation for the mechanisms underlying 46,XY DSD, Bashamboo et al. showed that the p.Arg92Trp mutant protein failed to bind an NR5A1-binding sequence (CCAAGGTCA) and had a reduced ability to activate TESCO (a testis-specific enhancer for Sox9) and the promoters of AMH and Cyp11a1 [12].