The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

Danacıoğlu, Yavuz Onur; Yenice, Mustafa Gürkan; Akkaş, Fatih; Soytaş, Mustafa; Seyhan, Serhat; Taşcı, Ali İhsan

The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

dc.authorid	0000- 0002-3474-3510
dc.contributor.author	Danacıoğlu, Yavuz Onur
dc.contributor.author	Yenice, Mustafa Gürkan
dc.contributor.author	Akkaş, Fatih
dc.contributor.author	Soytaş, Mustafa
dc.contributor.author	Seyhan, Serhat
dc.contributor.author	Taşcı, Ali İhsan
dc.date.accessioned	2023-03-31T11:42:11Z
dc.date.available	2023-03-31T11:42:11Z
dc.date.issued	2021
dc.department	İstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Üroloji Ana Bilim Dalı
dc.description.abstract	Objective: Advances in the science of genet- ics and the development of assisted reproductive techniques focus on the genetic causes of infer- tility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneu- ploidy and Y chromosome microdeletions. Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined. Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 in- fertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group. Conclusion: The incidence of genetic causes have been increasing with the severity of infertil- ity. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques.
dc.description.abstract	Amaç: Genetik bilimindeki ilerlemeler ve yardımcı üreme tekniklerindeki gelişmeler, infer- tilitenin genetik nedenlerine odaklanmamızı sağ- lamaktadır. Bu çalışmada, sex kromozomu anöplo- idisi ve Y kromozom mikrodelesyonları açısından genetik anormallikleriaraştırmayı amaçladık. Gereç ve Yöntemler: Azospermi veya şiddet- li oligozoospermi (? 5 milyon spermatozoa/ml) olan toplam 350 hasta analiz edildi. Hastalar genel muayene ve laboratuvar değerlendirmesi sonrası, karyotip ve Y kromozom mikrodelesyonu açısın- dan değerlendirildi. Bulgular: Non-obstrüktif azospermi (NOA) olan toplam 225 infertil erkek ve oligozoospermi olan 125 infertil erkek çalışmaya dahil edildi. Ge- nel sitogenetik anomali oranı% 16 idi. Üç yüz elli vakanın 32’sinde (% 9,1) kromozom değişiklikleri tespit edildi. En sık görülen genetik anomali 47, XXY (Klinefelter sendromu KS) idi ve insidansı NOA grubunda % 11.5 ve oligozoospermi gru- bunda % 3,2 idi. Y kromozom mikrodelesyonu 24 (% 6.8) hastada tespit edildi ve benzer şekilde NOA grubunda oligozoospermi grubuna göre daha sık görüldü (% 9.3 vs % 2.4, sırasıyla). Sonuç: İnfertilitenin şiddeti ile birlikte gene- tik nedenlerin görülme sıklığı artmaktadır. Sonuç olarak, yardımcı üreme tekniklerinin kullanılma- sından önce genetik tarama ve uygun genetik da- nışmanlığa ihtiyaç duyulmaktadır.
dc.identifier.citation	Danacıoğlu, Y. O., Yenice, M. G., Akkaş, F., Soytaş, M., Seyhan, S. ve Taşcı, A. İ. (2021). The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population. The New Journal of Urology, 16(2), 159-164. https://dx.doi.org/10.33719/yud.2021;16-2-834672
dc.identifier.doi	10.33719/yud.2021;16-2-834672
dc.identifier.endpage	164
dc.identifier.issn	1305-2489
dc.identifier.issue	2
dc.identifier.startpage	159
dc.identifier.trdizinid	1111617
dc.identifier.uri	https://dx.doi.org/10.33719/yud.2021;16-2-834672
dc.identifier.uri	https://hdl.handle.net/20.500.12511/10793
dc.identifier.volume	16
dc.indekslendigikaynak	TR-Dizin
dc.institutionauthor	Soytaş, Mustafa
dc.language.iso	en
dc.relation.ispartof	The New Journal of Urology	en_US
dc.relation.publicationcategory	Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rights	Attribution-NonCommercial 4.0 International	*
dc.rights	info:eu-repo/semantics/openAccess
dc.rights.uri	https://creativecommons.org/licenses/by-nc/4.0/	*
dc.subject	Azospermia
dc.subject	Chromosome
dc.subject	Infertility
dc.subject	Microdeletion
dc.subject	Oligozoospermiaage
dc.subject	Azospermia
dc.subject	Kromozom
dc.subject	Infertilite
dc.subject	Microdelesyon
dc.subject	Oligozoospermi
dc.title	The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population
dc.title.alternative	Türk popülasyonunda oligozoospermi ve azospermi hastalarında infertilitenin genetik nedenleri
dc.type	Article