A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan.

A 17-year-old patient with mixed gonadal dysgenesis (MGD) showing ambiguous genitalia and hypergonadotropic hypogonadism was described. By intraabdominal exploration, a poorly developed uterus with a fallopian tube and a streak gonad was found on the right side and a poorly developed testis with epidydimis and vas deferens on the left. Chromosomal analysis on cultured peripheral lymphocytes and bone marrow cells showed 45,X karyotype, while among the majority of 45,X cells small numbers of 46,X+ mar cells (3-23%) were found in cultured fibroblasts from the abdominal skin and various organ tissues. We compared our patient with the Japanese patients with MGD reported in the literatures.