[A case of a 46XX male]

A 37-year-old man consulted our hospital with a complaint of male infertility. He was masculine but 159.9 cm in height. His beard, axillary hair and pubic hair were all normal. The penis and scrotum were also normal, but bilateral testes were very small (1 ml. respectively). Semen analysis revealed azoospermia. Endocrinological examination showed elevated serum lactating hormone and follicle stimulating hormone level, and extremely low level of serum testosterone. Testicular biopsy disclosed severely hyalinized seminiferous tubules and hyperplasia of Leydig cells. No ovarian tissue could be detected. The chromosomal analysis revealed a karyotype of 46 XX. This case was diagnosed as a case of 46XX male. The Japanese literature of 46XX male is reviewed.