H-Y抗原陽性の46XX male2症例

Abstract

Two cases of phenotypic males with 46XX karyotype are reported. The first case is a 41-yearold married man. He complained of sterility and had hypoplastic testes without other clinical symptoms of abnormal sexual development. The second case is a 35-year-old married man. He also complained of sterility. The external genitalia appeared normal in size, but small testes and gynecomastia were noted. In each cases, pituitary gonadotropin excretion was elevated. Serum testosterone level was low in one case. To certify the hypothesis that H-Y antigen is essential for testicular differentiation, we studied two our cases. H-Y antigen can be detected by the cytotoxicity test in vitro. Blood cells from two XX males (our cases) expressed H-Y antigen. The clinical features, etiology of XX male syndrome are discussed and the literature is reviewed.