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DOI :10.26650/IUITFD.2020.0017   IUP :10.26650/IUITFD.2020.0017    Tam Metin (PDF)

TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ

Sinem Yalçıntepe, Damla Eker, Hakan Gürkan

Amaç: Y kromozom mikrodelesyonları dahil olmak üzere genetik faktörler erkek infertilitesi olgularının yaklaşık %10’undan sorumludur ve özellikle azoospermi veya ciddi oligozoospermi ile ilişkilidir. Çalışmamızda Trakya bölgesi’nde Y kromozom mikrodelesyon sıklığını saptamak ve AZF mikrodelesyonu olan infertil erkek olgularda heterojen fenotip hakkında bilgi sunmak amaçlanmıştır. Gereç ve Yöntem: Trakya Üniversitesi Hastanesi Tıbbi Genetik Anabilim Dalı Genetik Hastalıklar Değerlendirme Merkezi Polikliniği’ne 2011-2019 yılları arasında infertilite nedeni ile müracaat eden, non-obstruktif azoospermik veya oligozoospermik 446 erkek olguda konvansiyonel sitogenetik yöntemle karyotip analizi ve Y kromozom mikrodelesyon analizi yapıldı. Bulgular: Dört yüz kırk altı olgunun 19’unda (%4,26) Y kromozom mikrodelesyonu saptandı. Y kromozom mikrodelesyonu saptanan 19 olgunun 5’inde yapısal kromozom anomalileri eşlik etmekteydi. Y kromozomunda mikrodelesyon saptanmayan 352 olgunun 35’inde (%9,94) Klinefelter sendromu, 1’inde (%0,28) düşük oranlı Klinefelter sendromu mozaikliği, 3’ünde (%0,85) Robertsonian translokasyon taşıyıcılığı, 1’inde (%0,28) resiprokal translokasyon taşıyıcılığı saptandı. Sonuç: Non-obstruktif azoospermik veya oligozoospermik infertil erkek olgularda Y kromozom mikrodelesyon taraması prognostik değere sahiptir ve klinik prognozu etkilemektedir. Çalışmamızın sonuçları literatürde bildirilmiş olan azoospermik veya oligozoospermik infertil erkek olgularda mikroTESE öncesinde Y kromozom mikrodelesyon analizi yapılması önerisini desteklemektedir.

Anahtar Kelimeler: Y mikrodelesyon, erkek infertilitesi, kromozom anomalisi, azospermi, oligospermi
DOI :10.26650/IUITFD.2020.0017   IUP :10.26650/IUITFD.2020.0017    Tam Metin (PDF)

THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE

Sinem Yalçıntepe, Damla Eker, Hakan Gürkan

Objective: Genetic factors, including Y chromosome microdeletions, are responsible for about 10% of male infertility cases and are particularly associated with azoospermia or severe oligozoospermia. In our study, it was aimed to determine the frequency of Y chromosome microdeletions in the Thrace region and to provide information about the heterogeneous phenotype in infertile male patients with AZF microdeletion. Material and Method: Chromosome analysis and Y chromosome microdeletion analysis were performed on 446 male patients with non-obstructive azoospermia or oligozoospermia, who applied to the Trakya University Hospital Medical Genetics Department Genetic Diseases Diagnosis Center clinic between the years 2011-2019. Results: Y chromosome microdeletion was detected in 19 (4.26%) of 446 cases. Structural chromosomal anomalies were accompanied in 5 of 19 cases with Y chromosome microdeletions. Three hundred fifty-two cases had no Y chromosome microdeletion, 35 (9.94%) of these cases had Klinefelter syndrome, 1 (0.28%) case had Klinefelter syndrome low grade mosaicism, 3 (0.85%) cases had Robertsonian translocation carriage, and 1 (0.28%) had Reciprocal translocation carriage. Conclusion: Y chromosome microdeletion screening in non-obstructive azoospermic or oligosoospermic infertile male patients has prognostic value and affects clinical prognosis. The results of our study support the proposal to perform Y chromosome microdeletion analysis before microTESE in azoospermic or oligosoospermic infertile male patients as reported in the literature.  

Anahtar Kelimeler: Y microdeletion, male infertility, chromosome anomaly, azoospermia, oligospermia

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APA

Yalçıntepe, S., Eker, D., & Gürkan, H. (2021). TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ. İstanbul Tıp Fakültesi Dergisi, 84(1), 27-33. https://doi.org/10.26650/IUITFD.2020.0017


AMA

Yalçıntepe S, Eker D, Gürkan H. TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ. İstanbul Tıp Fakültesi Dergisi. 2021;84(1):27-33. https://doi.org/10.26650/IUITFD.2020.0017


ABNT

Yalçıntepe, S.; Eker, D.; Gürkan, H. TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ. İstanbul Tıp Fakültesi Dergisi, [Publisher Location], v. 84, n. 1, p. 27-33, 2021.


Chicago: Author-Date Style

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. 2021. “TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ.” İstanbul Tıp Fakültesi Dergisi 84, no. 1: 27-33. https://doi.org/10.26650/IUITFD.2020.0017


Chicago: Humanities Style

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. “TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ.” İstanbul Tıp Fakültesi Dergisi 84, no. 1 (May. 2024): 27-33. https://doi.org/10.26650/IUITFD.2020.0017


Harvard: Australian Style

Yalçıntepe, S & Eker, D & Gürkan, H 2021, 'TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ', İstanbul Tıp Fakültesi Dergisi, vol. 84, no. 1, pp. 27-33, viewed 3 May. 2024, https://doi.org/10.26650/IUITFD.2020.0017


Harvard: Author-Date Style

Yalçıntepe, S. and Eker, D. and Gürkan, H. (2021) ‘TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ’, İstanbul Tıp Fakültesi Dergisi, 84(1), pp. 27-33. https://doi.org/10.26650/IUITFD.2020.0017 (3 May. 2024).


MLA

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. “TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ.” İstanbul Tıp Fakültesi Dergisi, vol. 84, no. 1, 2021, pp. 27-33. [Database Container], https://doi.org/10.26650/IUITFD.2020.0017


Vancouver

Yalçıntepe S, Eker D, Gürkan H. TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ. İstanbul Tıp Fakültesi Dergisi [Internet]. 3 May. 2024 [cited 3 May. 2024];84(1):27-33. Available from: https://doi.org/10.26650/IUITFD.2020.0017 doi: 10.26650/IUITFD.2020.0017


ISNAD

Yalçıntepe, Sinem - Eker, Damla - Gürkan, Hakan. “TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ”. İstanbul Tıp Fakültesi Dergisi 84/1 (May. 2024): 27-33. https://doi.org/10.26650/IUITFD.2020.0017



ZAMAN ÇİZELGESİ


Gönderim18.02.2020
Kabul19.03.2020
Çevrimiçi Yayınlanma11.01.2021

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