NR5A1 and disorder of sexual differentiation: For instance, ambiguous genitalia characterized by hypospadias, micropenis with severe curvature of phallus and single perineal orifice, bifid scrotum and bilateral cryptorchidism were observed in an Italian patient with 46,XY DSD and NR5A1 mutation (c.690_691dup CTGCAGCTG) during the neonatal period [39].