Objective: To investigate whether extended chromosome analysis or testicular sonography, including flow Doppler imaging, before diagnostic testicular sperm extraction have predictive value for successful sperm retrieval in men with nonmosaic Klinefelter syndrome.
Design: Prospective clinical study.
Setting: IVF clinic and genetics laboratory at a university hospital.
Patient(s): Nineteen patients with nonmosaic Klinefelter syndrome and azoospermia.
Intervention(s): Collection of blood samples; histopathologic examination of testicular tissue; fluorescence in situ hybridization; sonography, including Doppler imaging; and testicular sperm extraction.
Main outcome measure(s): Testicular volume, serum FSH and serum testosterone levels, percentage of normal XY cells, ultrasound echogenicity, intratesticular blood flow resistance, and sperm recovery.
Result(s): Testicular volume and levels of serum FSH and serum testosterone levels did not differ significantly. No differences in testicular echogenicity or intratesticular blood flow resistance were found between 47,XXY men in whom sperm recovery was successful and those in whom sperm recovery failed. Significant differences were seen between all patients with the Klinefelter syndrome and controls with normal sperm values. Fluorescence in situ hybridization of peripheral lymphocytes and buccal tissue showed no correlation between frequency of normal 46,XY cells and testicular spermatogenesis.
Conclusion(s): In azoospermic men with the Klinefelter syndrome, histopathologic findings seem to be predictive for successful sperm recovery. Infertility work-up, including diagnostic testicular sperm recovery, is recommended, and, if possible, viable sperm should be cryopreserved.