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. 2022 Nov 9;12(11):1840.
doi: 10.3390/life12111840.

Correlation between Cytogenetic Findings and Spermatogenic Failure in Bulgarian Infertile Men

Svetlana Yovinska  1 , Kalina Belemezova  2 , Mariela Hristova-Savova  2 , Tanya Milachich  2   3 , Petya Andreeva  2 , Lachezara Veleva  2 , Yuri Buchvarov  2 , Maria Yunakova  2   4 , Tanya Timeva  2 , Atanas Shterev  2 , Ivanka Dimova  2   5
Affiliations

Correlation between Cytogenetic Findings and Spermatogenic Failure in Bulgarian Infertile Men

Svetlana Yovinska et al. Life (Basel). .

Abstract

The aim 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 correlations between cytogenetic findings and the abnormal results of semen analysis. In our study, we performed cytogenetic analysis in 901 infertile men, divided into five groups according to semen analysis-normozoospermia (86), asthenozoospermia (394), oligoasthenozoospermia (182), severe male factor (100), and azoospermia (139). 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 found a significantly higher incidence of numerical chromosomal aberrations in severe male factor (7%) and azoospermia (9.3%). Oligoasthenozoospermia occured in 45% of cases with translocation, compared to 20% in the group with a normal karyotype. We revealed that chromosomal translocations are tightly associated with oligoasthenozoospermia, whereas numerical chromosomal aberrations-with severe male factor and azoospermia. The impact of chromosome polymorphisms on male infertility should be studied in greater detail.

Keywords: chromosomal aberrations and polymorphism; male infertility; spermatogenic failure.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Incidence of cytogenetic aberrations and polymorphisms in patients with normozoospermia.
Figure 2
Figure 2
Incidence of cytogenetic aberrations and polymorphisms in patients with asthenozoospermia and oligoasthenozoospermia.
Figure 3
Figure 3
Incidence of chromosomal aberrations and polymorphisms in patients with severe male factor and azoospermia.
Figure 4
Figure 4
Translocations involving acrocentric chromosomes (Robertsonian and non-Robertsonian). The arrows show derivative chromosmes.
Figure 5
Figure 5
Reciprocal translocations detected in the patients. The arrows show derivative chromosomes.
Figure 6
Figure 6
Incidence of different degrees of spermatogenic failure in different cytogenetic groups. Legend: 1—46,XY; 2—D/G heteromorphism; 3—Yqh polymorphism; 4—1, 9, and 16 qh polymorphism; 5—inv(9); 6—numerical aberrations; 7—translocations; 8—low-level mosaic marker chromosome.
See this image and copyright information in PMC

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