Successful testicular sperm extraction in Korean Klinefelter syndrome

To evaluate the clinical features of Korean Klinefelter syndrome (KS) and the outcome of intracytoplasmic sperm injection using fresh testicular spermatozoa obtained by testicular sperm extraction from these infertile men. Most patients with KS have a nonmosaic 47,XXY karyotype, and about 3% of males with KS are mosaic (46,XY/47,XXY). Great variability is present in the clinical findings. Testicular sperm extraction in conjunction with intracytoplasmic sperm injection has been performed in men with KS in the hope of finding spermatozoa, and some men with KS have had sperm retrieved successfully and achieved pregnancy.

From January 2000 to January 2002, 42 azoospermic patients were diagnosed with KS after cytogenic evaluation. The karyotypes for all patients were determined by cytologic analysis, including the evaluation of more than 30 peripheral blood lymphocyte metaphases. The patients underwent history and physical examination. The testicular volume was measured using an orchidometer. Semen analysis was performed twice according to the methods recommended by the World Health Organization. Their hormonal profile was also assessed.

Our study groups consisted of 36 patients with KS, 11 with mosaic and 25 with nonmosaic KS. Testicular sperm extraction was performed in all 36 patients. In 10 patients (27%), mature sperm were found in the wet preparation and were used for intracytoplasmic sperm injection. No statistically significant correlation was found between sperm extraction and age, serum follicle-stimulating hormone, serum testosterone, or testicular volume. The sperm retrieval rate of the patients with mosaic and nonmosaic KS was 54.5% and 16%, respectively. Intracytoplasmic sperm injection using fresh testicular spermatozoa resulted in a total fertilization rate of 50%.

In our study, patients with mosaic KS had a greater rate of successful sperm retrieval than did those with nonmosaic KS. However, age, serum follicle-stimulating hormone, testosterone level, and testicular volume had no statistically significant relationship with successful sperm retrieval. Testicular sperm obtained from patients with KS induced fertilization and delivery of chromosomally normal children.