(1) Abnormal external genitalia with 46,XY(2) The mother of the child was healthy during pregnancy (no infections, radiation, poisons, or drugs).(3) Previous results of whole-exome sequencing were negative.(4) AMH and INHB levels were below the reference range. Peritoneal exploration showed testicular atrophy or poor gonadal development. Ultrasonography showed no evidence of a uterus. The gene discussed is AMH; the disease is infection.