Ruolo dei fattori genetici sull'insorgenza e sui risultati del trattamento chirurgico del varicocele

AIM OF THE STUDY: The purpose of this study is that to identify possible implications of the presence of genetic abnormalities of male infertility evaluating the suitable response to surgical repair of varicocele, comparing the clinical characteristics of infertile men with the presence or absence of genetic abnormalities. MATERIALS AND METHODS: It has been evaluated the incidence of chromosomal abnormalities and microdeletions of the Y chromosome, through the use of techniques of cytogenetics and molecular biology in patients with varicocele of grade III, preoperatively submitted to physical examination and U.S. Doppler examination, and in which the seminal and hormonal parameters for the diagnosis of oligospermia didn't have meaningful differences. Six months after the surgical correction of the varicocele a comparation has been performed between the response to surgical repair between patients of group A (free of genetic defects) and patients of group B (with genetic defects) through the reevaluation of semen parameters and of the U.S.Doppler. RESULTS: 26.6% of patients had genetic defects suggesting a significant association of genetic alterations in varicocele. Moreover in the group without genetic abnormalitiy a better response to varicocelectomia has been observed. CONCLUSIONS: We found that a high percentage of examined patients showed genetic defects such as chromosomal aberrations (insertions, deletions, inversions or translocations) or Y chromosome microdeletions. As these genetic alterations are associated with infertility, genetic screening in patients with varicocele may represent a useful tool for diagnosis and prognosis of some cases of male infertility.