[A case of mixed gonadal dysgenesis with structural abnormalities of X chromosome (Xp+)]

An abnormal extra band on the short arm of the X chromosome was found in a 7-year-old reared as a female, of mixed gonadal dysgenesis. She had ambiguous external genitalia, scoliosis, short stature, mental retardation and motor paralysis of the limbs. Chromosomal analysis revealed the karyotype of 46,Xp+ Y. An uterus with fallopian tube, a streak gonad on the left side and a testicle on the right side were discovered at exploratory laparotomy. Bilateral gonads and fallopian tube were removed. The chromosomal analysis of her normal mother showed the presence of the same abnormal X chromosome (46, X Xp+). In the literature, we found some cases of intersexuality with Xp+ in karyotype. The relationship between our own case and these Xp+ cases was discussed briefly. Thirty-five cases of mixed gonadal dysgenesis have been reported in Japanese literature, our own case being the 36th case.