Ultrastructural and Aneuploidy Studies in Sperm from Patients with His- tory of Consanguinity

Abstract

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 non- systematic sperm defects, compared with that of infertile non-consanguineous patients (group 2) and that of proven fertil- ity 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 per- formed 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 re- duced 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 af- fected by the condition of consanguinity.