title: Y chromosome microdeletions in infertile men with varicocele.
abstract: The pathogenic mechanisms by which varicocele disrupt spermatogenesis are not clearly understood and it is possible that when varicocele is associated with a severe bilateral testiculopathy, other causes may represent the actual aetiological factor. Since microdeletions in the Y chromosome long arm (Yq) have become in last years a major cause of male infertility, we perform a Yq microdeletion screening in infertile men with varicocele. We selected 40 patients with severe oligozoospermia (sperm count<5x10(6)/ml, group 1) and 80 with varicocele and mild oligozoospermia (sperm count 10-20x10(6)/ml, group 2). Deletions of Yq was observed in seven out of 40 patients (17.5%) of group 1, while no deletions were found in patients of group 2, suggesting that the bilateral testicular damage observed in patients of group 1 is due to the underlying genetic anomaly, and not to varicocele itself. The finding of a genetic aetiology in infertile men with varicocele suggests that in such patients a Yq microdeletion screening should be performed, both for a proper diagnosis and to avoid unnecessary treatments that will probably not improve the sperm count.
authors.affiliation: University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Via Ospedale 105, 35128, Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Moro
authors.forename: P
authors.initials: P
authors.lastname: Marin
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: A
authors.initials: A
authors.lastname: Garolla
authors.forename: A
authors.initials: A
authors.lastname: Ferlin
mesh_terms: D001707:Biopsy, Needle; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000473:pathology; D014646:Varicocele / Q000453:epidemiology / Q000473:pathology / Q000503:physiopathology*; D014998:Y Chromosome / Q000235:genetics*