The 46,XX patient (patient 8), with primary amenorrhea, hypergonadotropic hypogonadism, normal female external genitalia and small uterus harbored gene variants involved in gonadal development and DSD (CUL4B, DAPK1, EMX2, FREM2, IGFBP2, MAML3, MYO7A, NOTCH1, PIK3R3, TGFBI, WNT9A and WNT9B; Table 2). Here, WNT9A is linked to disorder of sexual differentiation.