NR5A1 and disorder of sexual differentiation: One gene, NR5A1 gene located on chr 9q33.3, has emerged play a major role as a common genetic cause in 10–20% of 46, XY DSD cases in the last few years (Suntharalingham et al., 2015; Takasawa et al., 2017), it encodes steroidogenic factor-1 (SF-1).