The relation between human Y chromosome microdeletions and sperm morphology

The relation between human Y chromosome microdeletions and sperm morphology

Objective: Recent investigations have supported the importance of Y chromosome microdeletions in male infertility. Besides different factors, sperm morphology is also a very important component of the clinical evaluation of male fertility potential. The aim of our study was to understand the relation between Y chromosome microdeletions and sperm morphology in different risk groups. Material and Methods: In this study, 34 infertile men were selected and examined in terms of sperm morphology and Y chromosome microdeletions. Semen analyses of the patients were performed by using Strict criteria and the samples were grouped according to the sperm abnormalities. Peripheral blood samples were examined for Y chromosome microdeletions by a multiplex polymerase chain reaction amplification of sequence-tagged sites (STS) of the Y chromosome. Results: The incidence of deletions in the group was 14.7 % (5/34). The rates of Y chromosome microdeletion were 33.3% for megalohead, 33.3% for elongehead, 0% for roundhead, 100% for pinhead, 14.3% for severe teratozoospermia, 33.3% for severe neck abnormalities and 0% for tail-stump. Pregnancy could not be obtained from Y chromosome deleted cases. Conclusion: It seems that especially patients with sperm head and neck abnormality have increased microdeletion risk. It is suggested that a detailed sperm morphology examination and classification is needed to clarify the Y chromosome deletion-sperm morphology relation.

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  • 1. Hartung M, Devictor M, Codaccioni JL. Yq deletion and failure of spermatogenesis. Ann Genet 1998; 51: 21-26. 2. Kobayashi K, Mizuno K, Hida A. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994 ; 3: 1965-1967. 3. Reijo R, Lee T, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RHA-binding protein gene, nature Genet 1995; 10: 383-393. 4. The ESHRE Capri Workshop Group. Male infertility update. Hum Reprod 1998; 13: 2025-2032. 5. Bardoni B, Zuffardi O, Guioli S. A deletion map of the human Yql 1 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; 11: 443- 451. 6. Chandley AC, Cooke HJ. Human male infertility - Y linked genes and spermatogenesis. Hum Mol Genet 1994; 3: 1449-1452. 7. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34: 119-124. 8. Fitch n, Richer CL, Pinsky L. Deletion of the long arm of the Y chromosome and review of the Y chromosome abnormalities. Am J Med Genet 1985; 20: 31-42. 9. Andersson M, Page DC, Pettay D. Y chromosome translocations and mosaicism in the aetiology of 45,X maleness: Assignment of fertility to factor to distal Yql 1. Hum Genet 1988; 79: 2-7. 10. Johnson MD, Tho SPT, Behzadian A. Molecular scanning of Yql 1 (interval 6) in men with sertoli cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732-1737. 11. Skare J, Drwinga H, Wyandt H. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36: 394-397. 12. Ma K, Sharkey A, Kirsch S. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Mum Mol Genet 1992; 1: 29-33. 13. Ma K, Inglis JD, Sharkey A. A chromsome gene family with RHA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287-1295. 14. Vogt PM, Chandley AC, liargreave TB. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis. Hum Genet 1992; 89: 491- 496. 15. Foresta C, Ferlin A, Garolla A. High frequency of well-defined Y chromosome deletions in- idiopathic sertoli cell only syndrome. Hum Reprod 1998; 13: 302-307. 16. Chai nn, Salido EC, Yen PH. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 1997;45: 355-361. 17. Vogt PH, Edelmann A, Kirsch S. Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yql 1. Hum Mol Genet 1996; 5: 933-943. 18. Foresta C, Ferlin A, Garolla A. Y chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82: 1075-1080.
  • 19. Girardi SK, Mielnik A, Schlegel PN. Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 1997; 12: 1635-1641. 20. Kremer JAM, Tuerlings JHAM, Meuleman EJH. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic. Hum Reprod 1997; 12: 687-691. 21.Pryor JL, Kent-First M, Muallem A. Microdeletions in the Y chromosome of infertile men. M Engl J Med 1997; 336: 534-539. 22. Simoni M, Gramoll J, Dwarniezak D. Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67: 542-547. 23. Kent-First MQ, Kol S, Muallem A. The incidence and possible relevance of Y-Linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod 1996b; 2: 943-950. 24. Reijo R, Alagappan RK, Patrizio P. Severe oligozoopermia resulting from deletions of the azoospermia factor gene. Lancet 1996a; 347: 1290-1293. 25. Stuppia L, Mastoprimiano G, Calabrese G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996; 72: 155-158. 26. Vereb M, Agunik AI, Houston JT Absence of DAZ gene mutations in cases of non- obstructed azoospermia. Mol Hum Reprod 1997; 3: 55-59, 27. Yashida A, Makahori Y, Kuroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997; 3: 709-712. 28. Lahn BT, Page D. Functional coherence of the human Y chromosome. Science 1998; 278: 675-680. 29. Krausz C, Bussani-Mastellone C, Granchi S. Screening for microdeletion of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod 1999; 14:1717- 1721. 30. Kleiman SE, Yogev L, Qamzu R. Three- generation evolution of Y-chromosome microdeletion. J Androl 1999; 20: 394-398. 31. Peterlin B, Kunej T, Sinkovec J, Gligorievska N, Zorn B. Screening of Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Reprod 2002; 1: 17-24. 32. Brown GM, Furlong RA, Sargent CA. Characterization of the coding sequence and fine mapping of the human DFFRY gene and comparative Dffry gene. Hum Mol Genet 1998; 7: 97-107. 33. Kent-First M, Muallem A, Shultz J. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth microdeletion detection. Mol Reprod Dev 1999; 53: 27-41. 34. Affara FİA. The role of the Y chromosome in male infertility. Exp Rev Mol Med 2001; 1-16. 35. Rolf C, Qromoll J, Simoni M, riieschlag E. natural transmission of a partial AZFb deletion of the Y chromosome over three generations: Case report. Mum Reprod 2002; 9: 2267- 2271. 36. Calogero AE, Qarofalo MR, Barone n, et al. Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. J Endocrinoi Invest 2002; 7: 631-634. 37. van Golde RJT, Werzels AMM, Oraaf R, Tuerlings JMAM, Braat DDM, Kremer JAM. Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Mum Reprod 2001; 16: 289-292. 38. Patsaiis PC, Sismoni C, Quintana-Murci L, et al. Effects of transmission of Y chromosome AZFc deletions. Lancet 2002; 360:1222- 1224.
  • 39. Komori S, Kato M, Kobayashi S, Koyoma K, Isojima S. Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection. J Mum Genet 2002; 47: 465-468. 40. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003; 40: 18-24. 41. Dahle GR, Malley DJ, Van Memel JO, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Mum Reprod 2002; 17: 13-16. 42. Yao Q, Chen Q, Pan T. Study of microdeletions in the Y chromosome of infertile men with idiopathic oligo- or azoospermia. J Assist Reprod Genet 2001; 18:612-616. 43. Oliva R, Margarit E, Ballesca J, et.al. Prevalence of Y chromosome microdeletions in oligozoospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril 1998; 70:506-510.