An unusual reciprocal X-autosome translocation in an infertile azoospermic man.

OBJECTIVE

To analyze an unusual reciprocal X-autosome translocation found in an infertile man with azoospermia.

DESIGN

Case report with a review of scientific literature.

SETTING

Male infertility clinic, Kobe University Hospital.

PATIENT(S): Infertile man with azoospermia but otherwise apparently healthy.

INTERVENTION(S): Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by fluorescence in situ hybridization procedure.

MAIN OUTCOME MEASURE(S): Seminal analysis, hormone levels, volume of testis, and pathologic analysis of testis were performed.

RESULT(S): The semen analysis revealed azoospermia. The lymphocytic karyotype showed a man with X-autosome translocations. Histopathologic examination of the sample showed maturation arrest.

CONCLUSION(S): This is the first clinical report of azoospermia with reciprocal X-autosome 11 translocations. This translocation may be a direct genetic risk factor for maturation arrest.