[Screening of Y chromosome microdeletions in infertile males with varicocele]

To investigate the relationship between Y chromosome microdeletions and human spermatogenesis in infertile men with varicocele (VC).

We divided 174 infertile VC patients into groups A (with azoospermia, n = 47) , B (with severe oligozoospermia, n=57) and C (with mild oligozoospermia, n=70), and enlisted 28 fertile males and 26 fertile females as normal controls. We collected DNA from the peripheral blood, amplified 6 sequence tagged sites in AZFa, AZFb and AZFc using multiplex PCR technique. Then we separated and scanned the amplified products by agarose gel electrophoresis to identify microdeletions and their types in comparison with the controls.

Y chromosome microdeletions were observed in 12.64% of the patients (22/174), 11 cases in group A and the other 11 in group B, but none in group C and the normal controls. The differences were statistically significant (P<0.05). In group A, 6 of the microdeletion cases were in the AZFc region, 1 in the AZFa region, 2 in the AZFb region and 2 in both AZFb and AZFc regions, while in group B, 8 cases were in the AZFc region, 2 in the AZFb region and 1 in both AZFb and AZFc regions.

Infertility is correlated to Y chromosome microdeletions in VC patients. Y chromosome microdeletion screening should be performed for infertile VC patients, especially for those with azoospermia or severe oligozoospermia.