A hemizygous c.230_231insA mutation in SRY was identified in a female patient with 46,XY complete gonadal dysgenesis (DSD01), and a heterozygous c.7389delA mutation in CHD7 was found in a woman with a small uterus, primary amenorrhea, short stature, and dysplastic ears (DSD04). Here, CHD7 is linked to Primary amenorrhea.