Journal of Istanbul Faculty of Medicine

SUBMITINFORMATION
EnglishTürkçe

Research Article


DOI :10.26650/IUITFD.2020.0017   IUP :10.26650/IUITFD.2020.0017    Full Text (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.  

Keywords: Y microdeletion, male infertility, chromosome anomaly, azoospermia, oligospermia
DOI :10.26650/IUITFD.2020.0017   IUP :10.26650/IUITFD.2020.0017    Full Text (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.

Keywords: Y mikrodelesyon, erkek infertilitesi, kromozom anomalisi, azospermi, oligospermi

PDF View

References

  • 1. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem 2018;62:2-10. [CrossRef] google scholar
  • 2. Heidary Z, Saliminejad K, Zaki-Dizaji M, Khorram Khorshid HR. Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility. Hum Fertil (Camb) 2018;1-10. doi: 10.1080/14647273.2018.1504325. [Epub ahead of print] [CrossRef] google scholar
  • 3. Hwang K, Yatsenko AN, Jorgez CJ, Mukherjee S, Nalam RL, Matzuk MM, et al. Mendelian genetics of male infertility. Ann N Y Acad Sci 2010;1214:E1-E17. [CrossRef] google scholar
  • 4. Koh E, Sin HS, Fukushima M, Namiki M. Azoospermia factor and male infertility. Reprod Med Biol 2010;9(3):129-37. [CrossRef] google scholar
  • 5. Lee HD , Lee HS, Park SH, Jo DG, Choe JH, Lee JS, et al. Causes and classification of male infertility in Korea. Clin Exp Reprod Med 2012;39(4):172-5. [CrossRef] google scholar
  • 6. Alimardanian L, Saliminejad K, Razi S, Ahani A. Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia. Andrologia 2016;48(9):890-4. doi.org/10.1111/and.12527 Epub 2016 Jan 14. [CrossRef] google scholar
  • 7. Mokánszki A, Ujfalusi A, Gombos É, Balogh I. Examination of Y-Chromosomal Microdeletions and Partial Microdeletions in Idiopathic Infertility in East Hungarian Patients. J Hum Reprod Sci 2018;11(4):329-36. [CrossRef] google scholar
  • 8. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 1999;53(1):27-41. [CrossRef] google scholar
  • 9. Sciarra F, Pelloni M, Faja F, Pallotti F, Martino G, Radicioni AF, et al. Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome. J Endocrinol Invest 2019;42(7):833-42. [CrossRef] google scholar
  • 10. Kim SY, Kim HJ, Lee BY, Park SY, Lee HS, Seo JT. Y Chromosome Microdeletions in Infertile Men with Nonobstructive Azoospermia and Severe Oligozoospermia. J Reprod Infertil 2017;18(3):307-15. google scholar
  • 11. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet 2008;25(11-12):559-65. [CrossRef] google scholar
  • 12. Samli H, Samli MM, Solak M, Imirzalioglu N. Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia. Arch Androl 2006;52(4):263-7. [CrossRef] google scholar
  • 13. Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 2018;16(1):14. [CrossRef] google scholar
  • 14. Sabbaghian M, Mohseni Meybodi A, Rafaee A, Saba S, Zamanian M, Sadighi Gilani MA. Sperm retrieval rate and reproductive outcome of infertile men with azoospermia factor c deletion. Andrologia 2018;50(7):e13052. doi: 10.1111/and.13052. Epub 2018 Jun 19. [CrossRef] google scholar
  • 15. Gürkan H. Y kromozomu mikrodelesyonu ve fertiliteyi etkileyen Y kromozomu genleri. Çefle K, Öztürk Ş, editörler. İnfertilite ve Genetik Yönü. 1. Baskı. Ankara: Türkiye Klinikleri 2019;25-31. google scholar
  • 16. Cetinkaya M, Onem K, Zorba OU, Ozkara H, Alici B. Evaluation of Microdissection Testicular Sperm Extraction Results in Patients with Non-Obstructive Azoospermia: Independent Predictive Factors and Best Cut off Values for Sperm Retrieval. Urol J 2015;12(6):2436-43. google scholar
  • 17. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell only syndrome. Mol Hum Reprod 2001;7:987-94. [CrossRef] google scholar
  • 18. Perrin J, Metzler-Guillemain C, Karsenty G, Grillo JM, Mitchell MJ, Guichaoua MR. Meiotic arrest at the midpachytene stage in a patient with complete azoospermia factor b deletion of the Y chromosome. Fertil Steril 2006;85(2):494. e5-8. [CrossRef] google scholar
  • 19. Longepied G, Saut N, Aknin-Seifer I, Levy R, Frances AM, Metzler-Guillemain C, et al. Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum Reprod. 2010;25(10):2655-63. [CrossRef] google scholar
  • 20. Totonchi M, Meybodi AM, Boroujeni PB, Gilani MS, Almadani N, Gourabi H. Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion. J Assist Reprod Genet 2012; 29(8):847-853. [CrossRef] google scholar
  • 21. Kumtepe Y, Beyazyurek C, Cinar C, Ozbey I, Ozkan S, Cetinkaya K, et al. A genetic survey of 1935 Turkish men with severe male factor infertility. Reprod Biomed Online 2009;18(4):465-74. [CrossRef] google scholar
  • 22. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003;18:1660-5. [CrossRef] google scholar
  • 23. Patrat C, Bienvenu T, Janny L, Faure AK, Fauque P, AkninSeifer I, et al. Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril 2010;93:822-32. [CrossRef] google scholar
  • 24. Alves C, Carvalho F, Cremades N, Sousa M, Barros A. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet 2002;10(8):467-74. [CrossRef] google scholar
  • 25. Brisset S, Izard V, Misrahi M, Aboura A, Masoux S, Ferlicot S, et al. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. Hum Reprod 2005;20(8):2168-72. [CrossRef] google scholar
  • 26. Gao M, Pang H, Zhao YH, Hua J, Tong D, Zhao H, et al. Karyotype analysis in large sample cases from Shenyang Women’s and Children’s hospital: a study of 16,294 male infertility patients. Andrologia 2017;49(4). [CrossRef] google scholar
  • 27. Wu QY, Li N, Li WW, Li TF, Zhang C, Cui YX, et al. Clinical, molecular and cytogenetic analysis of 46, xx testicular disorder of sex development with sry-positive. BMC Urology 2014;14:70 [CrossRef] google scholar
  • 28. Anik A, Catli G, Abaci A, Bober E. 46,xx male disorder of sexual development: A case report. Journal of Clinical Research in Pediatric Endocrinology 2013;5:258-260. [CrossRef] google scholar
  • 29. Andrade JG, Guerra-Júnior G, Maciel-Guerra AT. 46, XY and 45, X/46, XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol 2010;54:331-4. [CrossRef] google scholar

Citations

Copy and paste a formatted citation or use one of the options to export in your chosen format


EXPORT



APA

Yalçıntepe, S., Eker, D., & Gürkan, H. (2021). THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE. Journal of Istanbul Faculty of Medicine, 84(1), 27-33. https://doi.org/10.26650/IUITFD.2020.0017


AMA

Yalçıntepe S, Eker D, Gürkan H. THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE. Journal of Istanbul Faculty of Medicine. 2021;84(1):27-33. https://doi.org/10.26650/IUITFD.2020.0017


ABNT

Yalçıntepe, S.; Eker, D.; Gürkan, H. THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE. Journal of Istanbul Faculty of Medicine, [Publisher Location], v. 84, n. 1, p. 27-33, 2021.


Chicago: Author-Date Style

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. 2021. “THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE.” Journal of Istanbul Faculty of Medicine 84, no. 1: 27-33. https://doi.org/10.26650/IUITFD.2020.0017


Chicago: Humanities Style

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. “THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE.” Journal of Istanbul Faculty of Medicine 84, no. 1 (Apr. 2024): 27-33. https://doi.org/10.26650/IUITFD.2020.0017


Harvard: Australian Style

Yalçıntepe, S & Eker, D & Gürkan, H 2021, 'THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE', Journal of Istanbul Faculty of Medicine, vol. 84, no. 1, pp. 27-33, viewed 20 Apr. 2024, https://doi.org/10.26650/IUITFD.2020.0017


Harvard: Author-Date Style

Yalçıntepe, S. and Eker, D. and Gürkan, H. (2021) ‘THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE’, Journal of Istanbul Faculty of Medicine, 84(1), pp. 27-33. https://doi.org/10.26650/IUITFD.2020.0017 (20 Apr. 2024).


MLA

Yalçıntepe, Sinem, and Damla Eker and Hakan Gürkan. “THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE.” Journal of Istanbul Faculty of Medicine, 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. THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE. Journal of Istanbul Faculty of Medicine [Internet]. 20 Apr. 2024 [cited 20 Apr. 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. “THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE”. Journal of Istanbul Faculty of Medicine 84/1 (Apr. 2024): 27-33. https://doi.org/10.26650/IUITFD.2020.0017



TIMELINE


Submitted18.02.2020
Accepted19.03.2020
Published Online11.01.2021

LICENCE


Attribution-NonCommercial (CC BY-NC)

This license lets others remix, tweak, and build upon your work non-commercially, and although their new works must also acknowledge you and be non-commercial, they don’t have to license their derivative works on the same terms.


SHARE




Istanbul University Press aims to contribute to the dissemination of ever growing scientific knowledge through publication of high quality scientific journals and books in accordance with the international publishing standards and ethics. Istanbul University Press follows an open access, non-commercial, scholarly publishing.