Azospermi ve oligospermi hastalarda kromozom analizi ve Y-mikrodelesyonu sonuçlarının değerlendirilmesi
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Tarih
2024
Yazarlar
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Yayıncı
Dicle Üniversitesi, Sağlık Bilimleri Enstitüsü
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Bu çalışma Tıbbi Biyoloji ve Genetik Bölümüne azospermi ve oligospermi tanısıyla gelen idiyopatik infertil hastalarda, RT-PCR ile Y-mikrodelesyon ve sitogenetik yöntemlerle karyotip incelemeler yaparak, idiyopatik erkek infertilitesinde genetik faktörlerin etkisini ve sıklığını araştırmayı amaçlamıştır. Gereç ve Yöntem: Tibbi biyoloji ve Genetik Bölümüne 2021 ve 2023 yılları arasında başvuran 410 azospermik birey ve 140 oligospermik bireye karyotip analizi ve Y-mikrodelesyon analizi yapıldı. Hastaların yaş, infertilite süresi, biyokimya sonuçları ve pedigrileri kaydedildi. Bulgular: Çalışmamızda toplam 550 infertil hasta incelendi 27(%4,9)'sinde Y-mikrodelesyonu saptandı. Y-mikrodelesyon saptanan vakaların tamamı azospermikti. Vakalardan 5'inde AZFb+c delesyonu, 1 vakada AZFa+b delesyonu, 1 vakada AZFa+c ve 1 vakada AZFa+b+c delesyonu saptandı. Çalışmamızda 27 Y-mikrodelesyonu pozitif hastalardan en az görülen delesyon 6(%1,09) vakada AZFa(sY86)'ydı. En sık görülen delesyon 14(%2,54) vakada AZFb(sY127)'ydi. Vakalardan 4'ünde sadece AZFc delesyonu, 8'sinde sadece AZFa ve 7'sinde sadece AZFb delesyonu saptandı. Çalışmamızda 421 vakada sitogenetik inceleme yapıldı, 14(%3,33) hastada yapısal kromozomal anomali saptandı, bunlardan 3'ü oligospermi vakasıydı, 58(%13,77) hastada sayısal kromozomal anomali tespit edildi. Klinefelter sendromu 53(12,5) vakada tespit edildi. Oligospermi vakaların hiçbirinde sayısal kromozomal anomali görülmedi. Çalışmamızda 72(%17,1) bireyde karyotip anomalisi saptandı. Çalışmamızda heterokromatin varyantı 421 infertil bireyden 100(%23,75) bireyde saptanmıştır. En sık heterokromatin varyantı 36(%8,55) vakada 46,XY,9qh+ karyotipi olarak görüldü. Sonuç: İnfertil erkeklerdeki bulgular, üreme sağlığı tedavilerinde genetik profilin önemini vurgulamakta ve klinik uygulamalarda genetik testlerin daha yaygın kullanımını ve bu testlerin infertilite değerlendirmeleri için standart bir uygulama haline getirilmesini teşvik etmektedir. Sitogenetiğin ve Y-mikrodelesyonlarının erkek infertilitesindeki rolü, daha iyi bir danışmanlık ve tedavi olanağı sunabilir.
Aim: The aim of this study was to investigate the effect and frequency of genetic factors in idiopathic male infertility in idiopathic infertile patients with azoospermia and oligospermia in the Department of Medical Biology and Genetics by performing Y-microdeletion analyses using RT-PCR and cartyotype analyses using cytogenetic methods. Metarials and Methods: Karyotype analysis and y-microdeletion analysis were performed in 410 azoospermic individuals and 140 oligospermic individuals admitted to the Department of Medical Biology and Genetics between 2021 and 2023. Age, duration of infertility, biochemistry results and pedigrees of the patients were recorded. Result: In our study, a total of 550 infertile patients were analysed and Y-microdeletion was detected in 27 (4.9%) of them. All cases with Y-microdeletion were azoospermic. AZFb+c deletion was found in 5 cases, AZFa+b deletion in 1 case, AZFa+c in 1 case and AZFa+b+c deletion in 1 case. Among the 27 Y-microdeletion positive patients in our study, the least common deletion was AZFa(sY86) in 6(1.09%) cases. The most common deletion was AZFb(sY127) in 14(2.54%) cases. Only AZFc deletion was found in 4 cases, only AZFa deletion was found in 8 cases and only AZFb deletion was found in 7 cases. In our study, cytogenetic examination was performed in 421 cases, structural chromosomal abnormalities were detected in 14 (3.33%) patients, 3 of which were oligospermia cases, and numerical chromosomal abnormalities were detected in 58 (13.77%) patients. Klinefelter syndrome was detected in 53(12,5) cases. No numerical chromosomal abnormality was observed in any of the oligospermia cases. In our study, karyotype abnormalities were detected in 72(17,1%) individuals. In our study, heterochromatin variant was found in 100(23,75%) of 421 infertile individuals. The most common heterochromatin variant was 46,XY,9qh+ karyotype in 36(8,55%) cases. Conclution: The findings in infertile men emphasise the importance of genetic profiling in reproductive health treatments and encourage more widespread use of genetic testing in clinical practice and the standardisation of such testing for infertility evaluations. The role of cytogenetics and Y-microdeletions in male infertility may lead to better counselling and treatment.
Aim: The aim of this study was to investigate the effect and frequency of genetic factors in idiopathic male infertility in idiopathic infertile patients with azoospermia and oligospermia in the Department of Medical Biology and Genetics by performing Y-microdeletion analyses using RT-PCR and cartyotype analyses using cytogenetic methods. Metarials and Methods: Karyotype analysis and y-microdeletion analysis were performed in 410 azoospermic individuals and 140 oligospermic individuals admitted to the Department of Medical Biology and Genetics between 2021 and 2023. Age, duration of infertility, biochemistry results and pedigrees of the patients were recorded. Result: In our study, a total of 550 infertile patients were analysed and Y-microdeletion was detected in 27 (4.9%) of them. All cases with Y-microdeletion were azoospermic. AZFb+c deletion was found in 5 cases, AZFa+b deletion in 1 case, AZFa+c in 1 case and AZFa+b+c deletion in 1 case. Among the 27 Y-microdeletion positive patients in our study, the least common deletion was AZFa(sY86) in 6(1.09%) cases. The most common deletion was AZFb(sY127) in 14(2.54%) cases. Only AZFc deletion was found in 4 cases, only AZFa deletion was found in 8 cases and only AZFb deletion was found in 7 cases. In our study, cytogenetic examination was performed in 421 cases, structural chromosomal abnormalities were detected in 14 (3.33%) patients, 3 of which were oligospermia cases, and numerical chromosomal abnormalities were detected in 58 (13.77%) patients. Klinefelter syndrome was detected in 53(12,5) cases. No numerical chromosomal abnormality was observed in any of the oligospermia cases. In our study, karyotype abnormalities were detected in 72(17,1%) individuals. In our study, heterochromatin variant was found in 100(23,75%) of 421 infertile individuals. The most common heterochromatin variant was 46,XY,9qh+ karyotype in 36(8,55%) cases. Conclution: The findings in infertile men emphasise the importance of genetic profiling in reproductive health treatments and encourage more widespread use of genetic testing in clinical practice and the standardisation of such testing for infertility evaluations. The role of cytogenetics and Y-microdeletions in male infertility may lead to better counselling and treatment.
Açıklama
Anahtar Kelimeler
Azospermi, Oligospermi, Y-mikrodelesyon, Heterokromatin varyantı, Sitogenetik, Azoospermia, Oligospermia, Y-microdeletion, Heterochromatin variants, Cytogenetics
Kaynak
WoS Q Değeri
Scopus Q Değeri
Cilt
Sayı
Künye
Durmuş, C. (2024). Azospermi ve oligospermi hastalarda kromozom analizi ve Y-mikrodelesyonu sonuçlarının değerlendirilmesi. Yayımlanmamış yüksek lisans tezi, Dicle Üniversitesi, Diyarbakır.
