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 less than 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.

Background/Objectives: The variability of the internal acoustic meatus (IAM) and its morphological peculiarities are of high clinical significance in otologic interventions and neurosurgery. Considering the complexity of the neurovascular structures housed by the IAM, including passage of the facial nerve, the aim of the study was to highlight the morphological peculiarities of the IAM and their clinical significance. Methods: The age peculiarities of the IAM course were studied on 18 serially, transversely sectioned human embryos and fetuses, as well as on 20 newborn and 20 adult formalin-fixed hemiheads. The morphometric parameters of the IAM (width, height, length, and angles between the anterior and posterior walls of the IAM and the longitudinal axis of the petrous ridge (LAPR) were evaluated on 82 dry temporal bones. Results: In embryos and early fetal stages of development, the course of the IAM formed an acute, posteromedially open angle with the longitudinal axis of the petrous part of the temporal bone (LAP); in newborns, it was a right angle; in adults, it was an acute, anteromedially open angle. Various shapes of the IAO, such as oval (51.2%), semioval (23.2%), quadrangular (13.4%), heart-like (3.7%), and triangular (8.5%), were highlighted. The mean width of the internal acoustic opening (IAO) was 7.7 ± 2.11 mm (right/left—8.2 ± 2.22 mm/7.2 ± 1.89 mm), with a statistically significant difference (p = 0.031). The mean height of the IAO was 5.3 ± 1.43 mm (right/left—5.6 ± 1.58 mm/5.0 ± 1.22 mm), p = 0.082. The mean length of the IAM was 10.1 ± 2.83 (right/left—10.5 ± 2.96 mm/9.7 ± 2.67 mm), p = 0.214. A partial septum was revealed in 3.6% of cases, while total septation of the IAM was observed in 2.4%. The mean angle between the anterior wall of the IAM and the longitudinal axis of the petrous ridge (AWIAM/LAPR) was 21.4 ± 13.67° (right/left—22.2 ± 14.62°/20.5 ± 12.78°), p = 0.564. The mean angle between the posterior wall of the IAM and the longitudinal axis of the petrous ridge (PWIAM/LAPR) was 82.4 ± 8.02° (right/left—84.3 ± 7.93°/80.5 ± 7.76°); p = 0.032. Conclusions: In the initial stages of an individual’s ontogenesis, the IAM forms an acute, posteromedially open angle with the LAP; in newborns—a right angle; in adults—an acute, anteromedially open angle. Both morphological characteristics and morphometric parameters of the IAO and IAM vary bilaterally. The oval, semioval, quadrangular, heart-like, and triangular shapes of the IAO were highlighted. Partial and total septation of the IAM were revealed. Only the TDAIO and PWIAM/LAPR angle were statistically significant, p < 0.05, while the bilateral correlation was negligible. The established morphological variants of the IAM could predispose to facial and vestibulocochlear nerve impairments.

Genetic testing for common adult diseases, such as chronic multifactorial conditions like type 2 diabetes, cardiovascular diseases, cancer, neurodegenerative disorders, and autoimmune diseases, enables individual risk assessment, early identification of predisposed individuals, and optimization of prevention or treatment strategies. Aim: To synthesize data on available genetic tests for major categories of common adult diseases, with relevant examples, indications, and limits. Materials and methods: We analyzed scientific literature published between 2015 and 2025, including narrative reviews, systematic reviews, observational studies, and clinical guidelines. Results: Genetic testing for common adult diseases primarily relies on polygenic risk scores (PRS), SNP genotyping, or targeted panels. Genetic testing is conducted within specialized genetic consultations and is recommended in specific clinical contexts: early disease onset (e.g., cancer before age 50), positive family history across multiple generations, atypical clinical presentations, therapeutic indications (e.g., pharmacogenomics), and reproductive counseling. In each case, genetic testing has specific indications and limitations. Limitations arise from incomplete gene penetrance, meaning not all individuals with a pathogenic variant develop the disease; no single genetic mutation fully determines risk; and variability in gene expression, where individuals with the same mutation may exhibit different clinical forms. Epigenetic and environmental factors also influence risk. Conclusions: 1. Common adult diseases result from complex interactions between genes, epigenetics, and the environment. 2. Genetic tests offer opportunities for prevention, diagnosis, and personalized treatment, with clinical utility varying by disease. 3. The limitations of genetic testing stem from the etiological complexity of multifactorial diseases, requiring genetic counseling for result interpretation and communication.