O b je c tiv e : 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. R e su lts : 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. Co nclus io n: 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. Key Words: Y chromosome microdeletions, Sperm morphology, Male infertility
References
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Robayashi K, Mizuno R, llida 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.
Reijo R, Lee T, Salo P, et at. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RHA-binding protein gene, nature Genet 1995; 10: 383-393.
The PSHRE Capri Workshop Group. Male infertility update. Plum Reprod 1998; 13: 2025-2032.
Bardoni B, Zuffardi O, Guioli S. A deletion map of the human Yq 11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; II: 443- 451.
non fluorescent portion of the human Y chromosome long arm. Hum Genet I976;34:
I 19-124.
Pitch T1, Richer CL, Pinsky L. Deletion of the long arm of the Y chromosome and review of
3 0
Y chromosome microdeletions and sperm morphology
the Y chromosome abnormalities. Am J Med Genet 1985; 20: 31-42.
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 Yq 11. Hum Genet 1988; 79: 2-7.
Johnson MD, Tho SPT, Behzadian A. Molecular scanning of Yq 11 (interval 6) in men with sertoli cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732-1737.
I. Share J, Drwinga tl, Wyandt II. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36: 394-397.
!2. Ma b, Sharkey A, birsch S. Towards the molecular localisation of the AZP locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29-33.
Ma b, Inglis JD, Sharkey A. A chromsome gene family with KHA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287-1295.
Vogt PH, Chandley AC, Hargreave 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.
Foresta C, Ferlin A, Garolla A. High frequency of well-defined Y chromosome deletions in idiopathic sertoli cell only syndrome. Hum Keprod 1998; 13: 302-307.
Chai HIT, 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.
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Foresta C, Ferlin A, Garolla A. Y chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82: 1075-1080.
Girardi Sb, Mielnik A, Schlegel PH. Submicroscopic deletions in the Y chromosome of infertile men. Hum He prod 1997; 12: 1635-1641.
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Pryor JL, bent-First M, Muallem A. Microdeletions in the Y chromosome of infertile men. H Engl J Med 1997; 336: 534- 539.
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.
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Stuppia L, Mastoprimiano G, Calabrese G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCK in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996; 72: 155-158
Vereb M, Agunik Al, Houston JT Absence of DAZ gene mutations in cases of non- obstructed azoospermia. Mol Hum Keprod 1997; 3: 55-59
Yashida A, Hakahori Y, buroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997; 3: 709-712.
Lahn BT, Page D. Functional coherence of the human Y chromosome. Science 1998; 278: 675-680.
brausz C, Bussani-Mastellone C, Granchi S. Screening for microdeletion of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Keprod 1999; 14:1717- 1721.
bleiman SE, Yogev L, Gamzu K. Three- generation evolution of Y-chromosome microdeletion. J Androl 1999; 20: 394-398.
Peterlin B, bunej T, Sinkovec J, Gligorievska H, Zorn B. Screening of Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Keprod 2002; I: 17-24.
Brown GM, Furlong KA, Sargent CA. Characterization of the coding sequence and fine mapping of the human DFFKY gene and comparative Dffry gene. Hum Mol Genet 1998; 7: 97-107.
bent-First M, Muallem A, Shultz J. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome
Year 2002,
Volume: 15 Issue: 4, 227 - 232, 03.12.2016
Hartung M, Devictor M, Codaccioni JL. Yq deletion and failure of spermatogenesis. Ann Genet 1998; 31: 21-26.
Robayashi K, Mizuno R, llida 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.
Reijo R, Lee T, Salo P, et at. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RHA-binding protein gene, nature Genet 1995; 10: 383-393.
The PSHRE Capri Workshop Group. Male infertility update. Plum Reprod 1998; 13: 2025-2032.
Bardoni B, Zuffardi O, Guioli S. A deletion map of the human Yq 11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; II: 443- 451.
non fluorescent portion of the human Y chromosome long arm. Hum Genet I976;34:
I 19-124.
Pitch T1, Richer CL, Pinsky L. Deletion of the long arm of the Y chromosome and review of
3 0
Y chromosome microdeletions and sperm morphology
the Y chromosome abnormalities. Am J Med Genet 1985; 20: 31-42.
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 Yq 11. Hum Genet 1988; 79: 2-7.
Johnson MD, Tho SPT, Behzadian A. Molecular scanning of Yq 11 (interval 6) in men with sertoli cell-only syndrome. Am J Obstet Gynecol 1989; 161: 1732-1737.
I. Share J, Drwinga tl, Wyandt II. Interstitial deletion involving most of Yq. Am J Med Genet 1990; 36: 394-397.
!2. Ma b, Sharkey A, birsch S. Towards the molecular localisation of the AZP locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29-33.
Ma b, Inglis JD, Sharkey A. A chromsome gene family with KHA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287-1295.
Vogt PH, Chandley AC, Hargreave 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.
Foresta C, Ferlin A, Garolla A. High frequency of well-defined Y chromosome deletions in idiopathic sertoli cell only syndrome. Hum Keprod 1998; 13: 302-307.
Chai HIT, 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.
Vogt PH, Edelmann A, birsch S. Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yq 11. Hum Mol Genet 1996; 5: 933-943.
Foresta C, Ferlin A, Garolla A. Y chromosome deletions in idiopathic severe testiculopathies. J Clin Endocrinol Metab 1997; 82: 1075-1080.
Girardi Sb, Mielnik A, Schlegel PH. Submicroscopic deletions in the Y chromosome of infertile men. Hum He prod 1997; 12: 1635-1641.
bremer JAM, Tuerlings JttAM, Meuleman EJtl. Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic. Hum Keprod 1997; 12: 687-691.
Pryor JL, bent-First M, Muallem A. Microdeletions in the Y chromosome of infertile men. H Engl J Med 1997; 336: 534- 539.
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.
bent-First MG, bol 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 Keprod 1996b; 2: 943-950.
Reijo K, Alagappan Kb, Patrizio P. Severe oligozoopermia resulting from deletions of the azoospermia factor gene. Lancet 1996a; 347: 1290-1293.
Stuppia L, Mastoprimiano G, Calabrese G. Microdeletions in interval 6 of the Y chromosome detected by STS-PCK in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet 1996; 72: 155-158
Vereb M, Agunik Al, Houston JT Absence of DAZ gene mutations in cases of non- obstructed azoospermia. Mol Hum Keprod 1997; 3: 55-59
Yashida A, Hakahori Y, buroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod 1997; 3: 709-712.
Lahn BT, Page D. Functional coherence of the human Y chromosome. Science 1998; 278: 675-680.
brausz C, Bussani-Mastellone C, Granchi S. Screening for microdeletion of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Keprod 1999; 14:1717- 1721.
bleiman SE, Yogev L, Gamzu K. Three- generation evolution of Y-chromosome microdeletion. J Androl 1999; 20: 394-398.
Peterlin B, bunej T, Sinkovec J, Gligorievska H, Zorn B. Screening of Y chromosome microdeletions in 226 Slovenian subfertile men. Hum Keprod 2002; I: 17-24.
Brown GM, Furlong KA, Sargent CA. Characterization of the coding sequence and fine mapping of the human DFFKY gene and comparative Dffry gene. Hum Mol Genet 1998; 7: 97-107.
bent-First M, Muallem A, Shultz J. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome
Sevinç, D., Zehir, A., Biricik, A., Sertyel, S., et al. (2016). THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Medical Journal, 15(4), 227-232.
AMA
Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. March 2016;15(4):227-232.
Chicago
Sevinç, Deniz, Ahmet Zehir, Anıl Biricik, Semra Sertyel, Semra Kahraman, and İlter Güney. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal 15, no. 4 (March 2016): 227-32.
EndNote
Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ (March 1, 2016) THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Medical Journal 15 4 227–232.
IEEE
D. Sevinç, A. Zehir, A. Biricik, S. Sertyel, S. Kahraman, and İ. Güney, “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”, Marmara Med J, vol. 15, no. 4, pp. 227–232, 2016.
ISNAD
Sevinç, Deniz et al. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal 15/4 (March 2016), 227-232.
JAMA
Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. 2016;15:227–232.
MLA
Sevinç, Deniz et al. “THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY”. Marmara Medical Journal, vol. 15, no. 4, 2016, pp. 227-32.
Vancouver
Sevinç D, Zehir A, Biricik A, Sertyel S, Kahraman S, Güney İ. THE RELATION BETWEEN HUMAN Y CHROMOSOME MICRODELETIONS AND SPERM MORPHOLOGY. Marmara Med J. 2016;15(4):227-32.