Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

Background/Objectives: Chromosomal aberrations have a great impact on spermatogenesis, semen quality, and successful conception.The objective of our study was to determine the type and frequency of chromosomal aberrations and polymorphisms in men with different degrees of spermatogenic failure in comparison to men with normozoospermia, in order to find some correlations between cytogenetic findings and the abnormal results of semen analysis.Methods: In our study, we have performed cytogenetic analysis in 901 infertile men, divided into 5 groups according to semen analysis-normozoospermia, asthenozoospermia, oligoasthenozoospermia, severe male factor and azoospermia.Results: The frequency of polymorphisms was similar in all groups (11-16%, without significant differences).The frequency of numerical and structural aberrations increases with the degree of the spermatogenic failure (3.5% in normozoospermia, 5.6% in asthenozoospermia, 9.8% in oligoasthenozoospermia, 9% in severe male factor and 13.5% in azoospermia).We have found significantly higher incidence of numerical chromosome aberrations in severe male factor (7%) and azoospermia (9.3%).Oligoasthenozoospermia was associated with chromosomal translocations, as it occurs in 45% of cases with translocation, compared to 20% in the group with normal karyotype. Conclusion:We revealed that chromosomal translocations are significantly associated with oligoasthenozoospermia, whereas numerical chromosomal aberrations-with severe male factor and azoospermia.These are important aspects of genetic counseling for those cytogenetic findings.Chromosome polymorphisms don't seem to disturb significantly spermatogenesis and their impact should be studied in regard to unsuccessful pregnancy achievement, even in patients with normozoospermia.