Analysis of azoospermia factor loci polymorphisms among Tunisian infertile men with varicocele

The preponderance of experimental data from clinical and animal models demonstrates an adverse effect of varicocele on spermatogenesis. The review of the literature shows that there may be an underlying genetic etiology in varicocele. Here, we explore the Yq microdeletions among infertile men to evaluate their involvement in varicocele development and sperm production defect.

Microdeletions of 14 sequence-tagged-sites in the Yq11 region were screened in 210 infertile men using polymerase chain reaction techniques. Out of 210 infertile men, 69 (33%) men were with varicocele. Our results showed that the risk to develop varicocele is increased among infertile men with spermatogenesis (oligo-normospermia) (odds ratio = 3.57, confidence interval 95%: 1.49-8.84). However, we did not find any relationship between Y chromosome microdeletions and varicocele appearance (p = 0.73). In addition, a significant association was found between Y microdeletions and oligospermia (p < 10(-8)) or azoospermia (p < 10(-8)) using patients with normospermic characteristics as a control.

Our work showed the absence of relationship between Y chromosome microdeletions and varicocele development and the association of the two factors, independently, with sperm production defect.