Investigation of genetic causes in non-obstructive azoospermicpatients

Objective: Infertility is a health problem that affects millions of couples around the world. Male infertility is responsible for approximately half of the applications. About 15% of men and 10% of women with infertility may have genetic abnormalities, including chromosomal abnormalities and single gene mutations. As a result, the determination of genetic factors has become a good practice for the appropriate management of the infertile couple so that the genetic causes of infertility do not increase in the future. In this study, genetic analysis results of patients who applied for infertility and underwent testicular sperm extraction (TESE) operation with the diagnosis of Non-obstructive azoospermia were evaluated. In this study, it was aimed to reveal genetic defects that weaken or prevent spermatogenesis in male infertility. Materials and Methods: In our study, we aimed to compare peripheral blood chromosome analysis, molecular karyotyping, male infertility panel, testosterone, prolactin, follicular stimulating hormone and luteinizing hormone levels in nonobstructive azoospermic infertile patients aged 26-44 years, and to examine the relationship between these parameters and genetic mutations. Results: In our study, 1 of 26 patients had INSL3 gene mutation, which was considered pathogenic according to the criteria published by the American College of Medical Genetics and Genomics (ACMG), as well as FSHR gene polymorphism in 17 patients, CFTR mutations in 5 patients, CATSPER1 and TEX101 in 1 patient. , LHCGR in 1 patient, ZMYND15 in 1 patient, DNAH5 in 2 patients, and DNAH11 changes in 1 patient were detected. In the chromosome analysis, 47XXY kleinefelter syndrome was observed in 6 patients. Conclusion: The results show that non-obstructive azoospermic patients with infertility complaints may have other genetic changes that cause infertility, even if the chromosome vi analysis of the peripheral blood is normal. Investigating these underlying genetic disorders can help us find the cause of infertility.