Outcome of microdissection testicular sperm extraction in azoospermic patients with Klinefelter syndrome and other sex-chromosomal anomalies.

It has been indicated that approximately 20% of azoospermic patients have chromosomal anomalies, 90% of which are sex-chromosome abnormalities. Even azoospermic patients with sex-chromosomal anomalies might be able to father children using an advanced assisted reproductive technique such as microdissection testicular sperm extraction (micro-TESE) with intracytoplasmic sperm injection (ICSI). To evaluate the effect of micro-TESE in azoospermic patients with various sex-chromosomal anomalies, we reviewed their clinical results. A chromosomal survey using the G-banding technique was performed on males whose semen analysis demonstrated azoospermia at the Division of Male Infertilities at our institution between January 2004 and December 2009. Forty-two of these subjects demonstrated sex-chromosomal anomalies. The mean patient age was 34.4 ± 4.3 years. We classified them into two groups: Klinefelter syndrome (47,XXY) and other sex-chromosome abnormalities. Thirty-five patients showed Klinefelter syndrome and seven patients showed other sex-chromosome abnormalities. Serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T) levels were 36.3 ± 14.0 IU/L, 15.8 ± 6.7 IU/L, and 3.2 ± 2.0 ng/ml in Klinefelter syndrome, and 20.8 ± 10.4 IU/L, 8.2 ± 5.2 IU/L and 4.1 ± 1.5 ng/ml in other sex-chromosome abnormalities, respectively. The mean testicular volume was 4.0 ± 2.1 ml in Klinefelter syndrome and 9.9 ± 4.6 ml in other sex-chromosome abnormalities. Serum FSH and LH in Klinefelter syndrome were significantly higher than those in other sex-chromosome abnormalities, and the mean testicular volume in Klinefelter syndrome was significantly smaller than that in other sex-chromosome abnormalities. The sperm retrieval rate (SRR) for micro-TESE showed no significant difference between the two groups (42.4% vs. 42.9%). In this study, the outcome of micro-TESE appeared not to differ between Klinefelter syndrome and other sex-chromosome abnormalities.