The spectrum of diseases that might affect phenotypic females with CAUV and therefore, warrant consideration in the differential diagnosis of MRKHS also involve the following: complete androgen insensitivity syndrome (CAIS), steroid 5α-reductase type 2 (SRD5A2) deficiency, 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency, and Leydig cells hypoplasia (LCH) (Table 1). Here, HSD17B3 is linked to complete androgen insensitivity syndrome.