Investigation of genetic causes in non-obstructive azoospermic patients

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. © 2025 The Author(s).