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, includ...
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MRE Press
2025-01-01
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| Series: | Journal of Men's Health |
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| Online Access: | https://oss.jomh.org/files/article/20250124-463/pdf/JOMH2024070201.pdf |
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| author | Bulut Dural Ilhan Gecit Emre Aykanli Cemal Ekici Fatih Oguz Ahmet Koc |
| author_facet | Bulut Dural Ilhan Gecit Emre Aykanli Cemal Ekici Fatih Oguz Ahmet Koc |
| author_sort | Bulut Dural |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-27bccff0e1094846869d3baf0fcf6dcf |
| institution | OA Journals |
| issn | 1875-6867 1875-6859 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MRE Press |
| record_format | Article |
| series | Journal of Men's Health |
| spelling | doaj-art-27bccff0e1094846869d3baf0fcf6dcf2025-08-20T02:13:31ZengMRE PressJournal of Men's Health1875-68671875-68592025-01-01211516310.22514/jomh.2025.005S1875-6867(25)00322-7Investigation of genetic causes in non-obstructive azoospermic patientsBulut Dural0https://orcid.org/0000-0002-1169-3792Ilhan Gecit1https://orcid.org/0000-0001-7329-6971Emre Aykanli2https://orcid.org/0000-0002-9767-4727Cemal Ekici3https://orcid.org/0000-0003-1872-3138Fatih Oguz4https://orcid.org/0000-0001-7292-0306Ahmet Koc5https://orcid.org/0000-0003-3484-2137Department of Urology, Faculty of Medicine, Erzincan Binali Yıldırım University, 24100 Erzincan, TurkeyDepartment of Urology, Inonu University Faculty of Medicine, 44050 Malatya, TurkeyDepartment of Urology, Faculty of Medicine, Erzincan Binali Yıldırım University, 24100 Erzincan, TurkeyDepartment of Urology, Inonu University Faculty of Medicine, 44050 Malatya, TurkeyDepartment of Urology, Inonu University Faculty of Medicine, 44050 Malatya, TurkeyDepartment of Medical Biology and Genetics, Inonu University Faculty of Medicine, 44050 Malatya, TurkeyBackground: 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.https://oss.jomh.org/files/article/20250124-463/pdf/JOMH2024070201.pdfazoospermiageneticinfertility |
| spellingShingle | Bulut Dural Ilhan Gecit Emre Aykanli Cemal Ekici Fatih Oguz Ahmet Koc Investigation of genetic causes in non-obstructive azoospermic patients Journal of Men's Health azoospermia genetic infertility |
| title | Investigation of genetic causes in non-obstructive azoospermic patients |
| title_full | Investigation of genetic causes in non-obstructive azoospermic patients |
| title_fullStr | Investigation of genetic causes in non-obstructive azoospermic patients |
| title_full_unstemmed | Investigation of genetic causes in non-obstructive azoospermic patients |
| title_short | Investigation of genetic causes in non-obstructive azoospermic patients |
| title_sort | investigation of genetic causes in non obstructive azoospermic patients |
| topic | azoospermia genetic infertility |
| url | https://oss.jomh.org/files/article/20250124-463/pdf/JOMH2024070201.pdf |
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