抄録
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.
