Ultrastructural and Aneuploidy Studies in Sperm from Patients with History of Consanguinity

The data on the role of consanguinity in male infertility are scarce. The presence of systematic sperm defects in consanguineous respect to non-consanguineous population was demonstrated. Systematic defects are characterized by a specific alteration present in sperm for the whole life of the carrier. This study was aimed at exploring the sperm quality in selected infertile consanguineous patients (group 3) with nonsystematic sperm defects, compared with that of infertile non-consanguineous patients (group 2) and that of proven fertility subjects (group 1). Sperm analysis was performed by light and transmission electron microscopy (TEM). TEM data was mathematically elaborated. Fluorescence in situ hybridization (FISH) analysis for chromosome 18, X and Y was performed in sperm nuclei for aneuploidy evaluation. The progressive motility was reduced in groups 2 (p < 0.05) and 3 (p < 0.01), compared to group 1, and in group 3 versus group 2 (p < 0.01). Regarding TEM scores, fertility index was reduced in group 3 (p < 0.01); the percentages of sperm apoptosis, necrosis and immaturity were significantly higher in groups 2 and 3 versus group 1 and in group 3 vs. group 2 (except for necrosis). FISH analysis showed increased frequency of diploidy (p < 0.01) in groups 2 and 3 vs. group 1. The consanguinity seems to influence the spermatogenetic process from a morphological point of view, by reducing the motility and fertility index and increasing sperm apoptosis and immaturity; chromosome meiotic segregation was not affected by the condition of consanguinity.