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). The gene discussed is WNT9A; the disease is Hypergonadotropic hypogonadism.