Effects of Chromosomal Translocations on Sperm Count in Azoospermic and Oligospermic Cases

Yıl 2022, Cilt: 6 Sayı: 3, 921 - 927, 29.09.2022

Akif Ayaz , Sinem Yalçıntepe , Özge Özalp Yüreğir , Elif Yılmaz Güleç , Alper Gezdirici , Ebru Perim Akçay Abdullah Hüseyin Köseoğlu , Yavuz Şahin

https://doi.org/10.30621/jbachs.1069678

Öz

Purpose
A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The aim of this study is to evaluate the effect of chromosome break areas on sperm count in the light of the literature.
Material and Methods
The study was conducted on the data of 16 male patients with reciprocal or Robertsonian translocation among 152 patients who were admitted to Adana Numune Training and Research Hospital and Kanuni Sultan Süleyman Training and Research Hospital Genetic Diagnosis Centers between 2013 and 2016 due to azoospermia and oligospermia.
Results
11 of these patients had reciprocal and five patients had Robertsonian translocations. All the patients with Robertsonian translocations were detected with azoospermia. Of the patients with reciprocal translocation, five of them were azoospermic and six of them were severe oligospermic.
Conclusion
A total of 21 chromosomal breakpoints were identified in the 11 patients with reciprocal translocations. These chromosomal breakpoints may contribute to the clarification of ambiguous issues related to spermatogenesis and sperm maturation. The results also showed the importance of genetic counselling in patients with translocations.

Anahtar Kelimeler

Azospermia, Oligospermia, Reciprocal, Robertsonian

Kaynakça

• REFERENCES 1. World Health Organization (2000) WHO Manual for the Standardised Investigation and Diagnosis of the Infertile Couple, Cambridge: Cambridge University Press.
• 2. Bhasin S, de Kretser DM, Baker HW: Clinical review 64: Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab 1994; 79: 1525 – 1529.
• 3. Gurunath S, Pandian Z, Anderson RA, Bhattacharya S. Defining infertility – a systematic review of prevalence studies. Hum Reprod Update. 2011;17:575–88.
• 4. Kosar PA, Ozcelik N, Kosar A. Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia. J Assist Reprod Genet. 2010;27:17–21.
• 5. Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002;17:13–6.
• 6. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Updat. 2008;14:379–90.
• 7. Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res. 2009;8:915–22.
• 8. Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Yi Chuan Xue Bao. 2006;33:111–16.
• 9. Chiang HS, Wei HJ, Chen YT. Genetic screening for patients with azoospermia and severe oligo-asthenospermia. Int J Androl. 2000;23:20–5.
• 10. Ng PP, Tang MH, Lau ET, Ng LK, Ng EH et al. Chromosomal anomalies and Y-microdeletions among Chinese subfertile men in Hong Kong. Hong Kong Med J. 2009;15:31–8.
• 11. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian J Med Res. 2005;122:34–42.
• 12. 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;25:559–65.
• 13. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, et al: Cytogenetics of infertile men. Hum Reprod 1996; 11(suppl 4): 1 – 26.
• 14. Baker HW: Clinical approach to molecular genetic diagnosis in andrology; in Robaire B, Chemes H, Morales CR (eds): Andrology in the 21th century. Englewood NJ, Medimond, 2001, pp373–382.
• 15. McLachlan RI, O’Bryan MK: State of the art for genetic testing of infertile men. J Clin EndocrinolMetab 2010;95:1013–1024.
• 16. Kara M, Sen A, Cetin ES and Kargun K (2014). Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male. Eurasian J. Med. 46: 220-223.
• 17. Solari AJ. Synaptonemal complex analysis in human male infertility. Eur J Histochem 1999;43:265–76.
• 18. Ishikawa T, Kondo Y, Yamaguchi K, Oba T, Sakamoto Y, et al. An unusual reciprocal X-autosome translocation in an infertile azoospermic man. Fertil Steril 2007;88:15–7.
• 19. Vidal F, Navarro J, Templado C, Brusadin S, Egozcue J. Synaptonemal complex studies in a mosaic 46,XY/47,XXY male.Hum Genet 1984; 66: 306–8.
• 20. Luciani JM, Guichaoua MR, Mattei A, Morazzani MR. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle.Cytogenet Cell Genet 1984; 38: 14–22.
• 21. Migeon BR. X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet 1994; 10: 230–5.
• 22. Khalil AM, Boyar FZ, Driscoll DJ. Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis. Proc Natl Acad Sci USA 2004; 101: 16583–7.
• 23. Ozalp O, Yilmaz Z, Kilicdag E.B. ,Bolat F, et al. Bagis T45,XY,der(13;14)(q10;q10) in an azoospermic man with hypogonadotrophic hypogonadism. Asian J Androl 2006; 8 (6): 751–753.
• 24. Gonsalves J, Sun F, Schlegel PN et al. Defective recombination in infertile men. Hum Mol Genet 2004;13:2875–2883.
• 25. Baarends WM, Wassenaar E, van der Laan R et al. Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol Cell Biol 2005;25:1041–1052.
• 26. Turner JM, Aprelikova O, Xu X et al. BRCA1, histone H2AX phosphorylation and male meiotic sex chromosome inactivation. Curr Biol 2004;14:2135–2142.
• 27. Olesen C, Hansen C, Bendsen E et al. Identification of human candidate genes for male infertility by digital differential display. Mol Hum Reprod 2001;7:11–20.
• 28. Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z et al. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004 Dec;12(12):993-1000.
• 29. Lee IW, Su MT, Hsu CC, Lin YH, Chen PY, Kuo PL.Constitutional complex chromosomal rearrangements in azoospermic men—case report and literature review. Urology. 2006 Dec;68(6):1343.e5-8.
• 30. Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC. Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet. 1988;48(1):43-7.
• 31. Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 2005;111:281–290.
• 32. Ferlin A, Arredi B, Foresta C. Review: Genetic causes of male infertility. Reprod Toxicol. 2006;22:133-41.
• 33. Egozcue J, Blanco J, Anton E, Egozcue S, Sarrate Z, Vidal F. Genetic analysis of sperm and implications of severe male infertility - a review. Placenta. 2003;24 (Suppl B):S62-5.