Therefore, the presence of female external genitalia without the uterus, in association with normal SRY and SRD5A2 genes, led us to the diagnostic hypothesis of (complete or partial androgen insensitivity syndrome) (CAIS/PAIS), that was tested through the sequence analysis of the AR gene which did not show any mutation. The gene discussed is SRD5A2; the disease is androgen insensitivity syndrome.