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.