Abstract:
Introduction. Male infertility has a heterogeneous etiology, most commonly caused by disorders of spermatogenesis, clinically
manifested as azoospermia or severe oligospermia. Genetic factors account for approximately 30% of male infertility cases
associated with azoospermia. This high frequency is due to the involvement of numerous genes in the regulation of sexual
development and reproduction. Among the various genetic causes of spermatogenic failure, chromosomal abnormalities
are among the most clinically significant. The objective of the study was to evaluate the profile of chromosomal variations
in infertile men with azoospermia, to optimize assisted reproductive strategies in infertile couples.
Material and methods. A group of 96 azoospermic men underwent karyotype analysis. The diagnosis of azoospermia was
established based on at least two consecutive semen analyses performed according to the guidelines of the World Health
Organization (WHO). Cytogenetic analysis was carried out on peripheral blood lymphocytes, with results interpreted
according to the 2016 International System for Human Cytogenetic Nomenclature (ISCN). Hormonal profiles (FSH, LH,
prolactin, testosterone) were correlated with chromosomal findings. Statistical analysis was performed using SPSS
(Statistical Package for the Social Sciences), version 22.0.
Results. Cytogenetic investigations in azoospermic patients (n = 96) revealed karyotype variations in 25.0% of cases,
including sex chromosome abnormalities in 16.7%: 47,XXY – Klinefelter syndrome (11.5%); microscopic structural
variations of the Y chromosome (2.1%); and single cases of 47,XYY – Jacobs syndrome; 46,XX male – sex reversal;
and 45,X/46,XY – mixed gonadal dysgenesis. Autosomal abnormalities were found in 8.3% of cases: translocations
(3.1%), inversions (2.1%), chromosomal polymorphisms (2.1%), and one case with 46,XY,fra(17)(p12). Patients with
sex chromosome abnormalities exhibited significantly higher FSH and LH levels compared to those with autosomal
abnormalities (p < 0.05), whereas prolactin and testosterone levels did not differ significantly between the groups.
Conclusions. The high prevalence of chromosomal abnormalities in azoospermic men supports the inclusion of cytogenetic
testing in the routine evaluation of male infertility. Identifying the type of chromosomal defect allows for appropriate
genetic counseling and aids in decision-making regarding assisted reproductive options.
