Dural, Bulut; Gecit, Ilhan; Aykanli, Emre; Ekici, Cemal; Oguz, Fatih; Koc, Ahmet

Background: Male factor infertility is a health problem that affects millions of couples around the world. Male factor infertility is responsible for approximately more than half of all cases of infertility. About 15% of men and 10% of women with infertility may have genetic abnormalities, including chromosomal abnormalities and single gene mutations. In this study, results of genetic analys is of the infertile male patients who underwent testicular sperm extraction (TESE) with the diagnosis of non-obstructive azoospermia were evaluated in order to reveal genetic defects that impair or prevent spermatogenesis in male infertility. Methods: We compared the results of peripheral blood chromosome analysis, molecular karyotyping, male infertility genetic panel, and also testosterone, prolactin, follicular stimulating hormone and luteinizing hormone levels in non-obstructive azoospermic infertile patients aged 26–44 years, and investigated the relationship between these parameters and genetic mutations. Results: As a result of this research, among 26 patients, INSL3 (insulin-like peptide 3) gene mutation, which is considered pathogenic according to the criteria published by the American College of Medical Genetics and Genomics (ACMG) was detected in 1, FSHR (follicle stimulating hormone receptor) gene polymorphism in 17, CFTR (cystic fibrosis transmembrane conductance regulator) mutations in 5, CATSPER1 (cation channel sperm associated 1) and TEX101 (testis expressed 101) in 1, LHCGR (luteinizing hormone/choriogonadotropin receptor) in 1, ZMYND15 (zinc finger mynd-type containing 15) in 1, DNAH5 (dynein axonemal heavy chain 5) in 2, and DNAH11 (dynein axonemal heavy chain 11) changes in 1 patient. In the chromosome analysis, 47XXY Klinefelter syndrome was observed in 6 patients. Conclusions: The results have shown that non-obstructivea zoospermic patients with complaints of infertility may have other genetic abnormalities leading to infertility, despite the results of chromosomal analysis of the peripheral blood samples were within normal reference limits. Investigating these underlying genetic disorders helped us find the cause of infertility in ourpatient population.

Keskin, Ercument; Ekici, Ozgur; Erdogan, Abdullah; Bozkurt, Aliseydi; Sambel, Murat; Karabakan, Mehmet; Mertoglu, Cuma

Erectile dysfunction (ED) is associated with endothelial damage, especially atheroscle-rosis. The search for biomarkers that can predict ED still continues. Adropin is known to affect nitric oxide (NO) bioavailability and energy homeostasis. In our study, we have aimed to investigate the relationship between serum adropin levels and ED. Male patients with and without ED between 40–60 years of age, who presented to the outpatient clinics of urology between November 2019–February 2020, were prospectively included in the study. Biochemical values measured at the time of admission to the outpatient clinic. According to the International Index of Erectile Function-5 (IIEF-5) scores which range between 5 and 25 points, patients with a score ≤21 were considered to have ED. The patients were divided into two groups: as ED and non-ED control groups. Laboratory values obtained at admission to outpatient clinics of urology were compared between groups. Patients with (n: 40), and without (n: 40) ED were included in the study. The mean age (50.2 ± 5.7 years), average body mass index (BMI) (29.7 ± 2.5 kg/m2 ), IIEF score (15.8 ± 6 pts), serum adropin (584.8 ± 172 pg/mL), and total testosterone (396.4 ± 91.7 ng/dL) levels were recorded. Serum adropin and testosterone levels were statistically significantly higher in the non-ED group than in the ED group (712.3 ± 222 pg/mL vs. 511.1 ± 145 pg/mL, p < 0.001 and 420.5 ± 56 ng/dL vs. 374.3 ± 98 ng/dL, respectively p = 0.032). Whereas fasting blood glucose (FBG) values were found to be statistically significantly higher in the ED group (100.2 ± 14 mg/dL vs. 143.8 ± 78 mg/dL, p = 0.001). According to the results of our study, serum levels of adropin which improves endothelial functions were comparatively lower in ED patients, as expected.