XX-male syndrome bearing the sex-determining region Y

The case of a 25-year-old man who presented for evaluation of infertility i s described. The physical examination revealed testicular atrophy without g ynecomastia. Repeated seminal analyses showed azoospermia, and serum hormon al levels suggested a state of a hypergonadotropic hypogonadism. Chromosoma l analysis demonstrated 46XX. Polymerase chain reaction revealed the existe nce of a sex-determining region Y. The etiology of this rare sex reversal s yndrome is discussed and cases reported in Japan are reviewed.