[A case of 46XX male]

A 24-year-old man consulted our hospital with a complaint of male infertility. Semen analysis revealed azoospermia. Endocrinological examination showed elevated serum luteinizing hormone and follicle stimulating hormone levels, and low normal level of serum testosterone. Testicular biopsy disclosed atrophic seminiferous tubules. Abdominal computed tomography revealed no ovaries or uterus. The chromosomal analysis revealed a karyotype of 46XX. This cases was diagnosed as a case of 46XX male. Forty six cases of this syndrome have been cited in the Japanese literature. We discussed the genesis of this syndrome.