[XX-male in a case of male infertility]

A 26-year-old man with the chief complaint of male infertility for 3 years was referred to our clinic. Physical examination of the patient revealed normal male habitus except for a small testis. His semen analysis showed no sperm. Levels of plasma LH and FSH were high compared with normal ones but that of plasma testosterone was within the normal range. Histological examination of his testis showed no spermatogenesis. Chromosome analysis with peripheral blood revealed 46, XX. H-Y antigen could be detected by in vitro cytotoxicity tests. By the above findings, the diagnosis of XX-male was made. Literature dealing with this disease is scanty. Only 18 cases of XX-male including our case were collected in Japan. The etiology and clinical features of this disease are discussed in the present report.