AR and disorder of sexual differentiation: The recommendations for the appropriate use of genetic testing in male children with genital malformation state that AR mutation analysis, along with karyotyping and hormonal work-up, should be performed in children with (1) a phenotype of uncertain sex at birth, (2) severe hypospadias, and (3) hypospadias associated with another sign of DSD that could be a manifestation of partial androgen insensitivity syndrome, such as micropenis or cryptorchidism [19].