Infertility status of male individuals with abnormal spermiogram evaluated by cytogenetic analysis and in vitro sperm penetration assay.

Background: The possibility of a link between altered sperm morphology and functional ability, possibly reflected on the genetic level, is still a matter of controversy.

Material/methods: 60 infertile males with pathological spermiogram and 14 healthy individuals with confirmed in vivo fertility were selected for our study. Ejaculated sperm was assessed according to the standard criteria set by the World Health Organization, which constituted a basis for subgroup classification. The sperm penetration assay (SPA) using human sperm and hamster oocytes was subsequently performed with concomitant cytogenetic analysis of peripheral blood leukocytes (PBL).

Results: More than 55% of infertile males with pathological spermiogram exhibited a decreased ability for penetration of the oocyte (SPAL30%). The lowest penetration ability was observed in the semen of patients with oligoasthenoteratozoospermia (OAT), of whom as many as 75% presented negative SPA values. We noted only 1 case of chromosome aberration (Robertsonian translocation) in the analyzed cohort of infertile patients. Strikingly, in the identified group of infertile patients with chromosome structural polymorphism (acrocentric chromosomes), we revealed a statistically significant decreased rate of sperm - oocyte penetration.

Conclusions: A causative link may exist between sperm malfunction and a specific feature of the chromosome variants detected in the blood leukocytes of infertile males with pathological spermiogram.