Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

Abstract

Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild, 57 moderate, 13 severe- and 293 with normospermia) undergoing In <em>Vitro </em>Fertilization (IVF) between 2016-2022 were enrolled in the study. Thirty-eight fertile men were also studied. Chromosomal analysis of peripheral blood lymphocytes was performed using standard cytogenetic techniques. 21/488 (4.3%) of men tested had an abnormal karyotype; 13 (2.7%) had sex chromosome abnormalities and 8 (1.6%) had autosomal ones. No chromosomal aberration was detected in the control group. The frequency of chromosomal alterations was significantly higher in azoospermic men than in men with oligospermia and normospermia (37% vs 4.2% and 1.4% respectively, p < 0.05). Moreover, in men with oligospermia, cytogenetic abnormalities were more common in the severe group (7.7%) followed by the moderate (5.25%) and the mild group (3%). The results of the study are by the literature. Karyotyping is suggestive especially in oligospermic /azoospermic men and before proceeding to IVF. The advent of high throughput sequencing technologies and genome-wide association studies will contribute to discovering novel promising genetic factors involved in male infertility.