Autosomal dominant polycystic kidney disease (ADPKD, OMIM # 601313, # 173900) and tuberous sclerosis complex (TSC2, OMIM # 191092, #613254) are inherited multisystemic diseases that rarely associate. Large deletion on chromosome 16 can result in TSC2/PKD1 contiguous gene (deletion) syndrome (PKDTS, OMIM # 600273) presenting significant diagnostic and management challenges. A 50-year-old male presented clinical features consistent with autosomal dominant polycystic kidney disease (ADPKD) and signs of tuberous sclerosis complex (TSC), such as multiple facial angiofibroma, cortical tubers, cerebral hamartomas, and renal and hepatic angiomyolipomas, was investigated for the multisystemic disease pattern. Genetic testing confirmed the diagnosis of TSC2/PKD1 contiguous gene deletion syndrome (PKDTS), leading to the initiation of tolvaptan treatment to reduce the progression of ADPKD and considering everolimus as a potential therapeutic solution to decrease the size of angiomyolipomas, thereby minimizing the risk of spontaneous bleeding. Our report underlines for the first time, up to our knowledge, that the proposed therapy protocol for PKD1/TSC2 contiguous gene deletion syndrome could have potential. This case illustrates the importance of recognizing overlapping genetic disorders, and providing insights into an innovative therapeutic approach. By integrating detailed clinical assessment with genetic testing, the diagnosis was clarified, and targeted therapies can be selected to address the dual impact of ADPKD and TSC; however, further studies are needed to evaluate the efficacy and safety of this approach. We also emphasize the need to recognize other cases of renal polycystic disease associated with angiomyolipomas and cutaneous manifestations.

VASCULAR ENDOTHELIAL GROWTH FACTOR: AN IMPORTANT BIOMARKER IN PEDIATRIC ISCHEMIC STROKE

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.

Introduction. It is estimated that over 15% of couples of reproductive age face infertility worldwide. In about half of these cases the male factor is involved. To assess the potential of male fertility the spermiogram analysis may not always be an optimal diagnostic tool, but it remains the basic clinical tool. Material and methods. The purpose of the study is to analyze the regional tendencies of the semen quality in male partners of couples facing infertility. A retrospective study of 4625 patients subject to semen analysis between 2012-2018 was conducted. All semen samples were collected after a recommended period of sexual abstinence of three to five days. The spermiogram analysis was performed by the computerized method according to WHO guidelines for Human Semen analysis, 2010. Results. Of the total number of 4625 men examined, 1861 (40.2%) presented normal values of semen – normozoospermia, and 2764 (59.8%) showed abnormal semen parameters. Asthenozoospermia was the most common abnormality profile recorded in 1394 (30.2%) men, followed by oligoasthenozoospermia diagnosed in 973 men (21.0%). Azoospermia was found in 200 men with an estimated prevalence of 4.3%. In 113 men examined, oligozoospermia was found in 2.4%. Oligoasthenoteratozoospermia was diagnosed in 1.5% and necrozoospermia in 0.3%. Conclusion. The study provides the first evidence that semen quality in men in the Republic of Moldova who are facing infertility in couples has deteriorated over the years.