NR5A1 and disorder of sexual differentiation: After long-term follow-up, the etiology of 46,XY DSD had been solved by the identification of p.Cys65Tyr mutation in the NR5A1 gene which was investigated based on the recent description of variable phenotypic expression as a result of different NR5A1 mutations, and also based on the possibility of a mutation inheritance from a fertile mother, which mimicked an X-linked recessive pattern [23-25].