The association between sperm sex chromosome disomy and semen concentration, motility and morphology

Human Reproduction

Volumn 27, Issue 10, 2012, Pages 2918-2926

  McAuliffe, M E ^a,b   Williams, P L ^a   Korrick, S A ^b,c   Dadd, R ^a   Perry, M J ^a,d  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b MILLENNIUM PHARMACEUTICALS INC   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

aneuploidy; fluorescence in situ hybridization; infertility; semen parameters; sex chromosome

Indexed keywords

ADULT; AGE; ARTICLE; CHROMOSOME 18; CHROMOSOME ABERRATION; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE GENITAL TRACT PARAMETERS; SAMPLE SIZE; SEMEN ANALYSIS; SEX CHROMOSOME; SEXUAL BEHAVIOR; SMOKING; SPERM MORPHOLOGY; SPERMATOZOON DENSITY; SPERMATOZOON MOTILITY; X CHROMOSOME; Y CHROMOSOME;

EID: 84866425518     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des302     Document Type: Article

References (64)

1. Aran B, Blanco J, Vidal F, Vendrell JM, Egozcue S, Barri PN, Egozcue J, Veiga A. Screening for abnormalities of chromosomes x, y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program, Fertil Steril 1999;72:696-701.
2. 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 Gen 2008;25:559-565.
3. Baumgartner A, Van Hummelen P, Lowe xR, Adler ID, Wyrobek AJ. Numerical and structural chromosomal abnormalities detected in human sperm with a combination of multicolor fish assays. Environ Mol Mutagen 1999;33:49-58.
4. Bernardini LM, Calogero AE, Bottazzi C, Lanteri S, Venturini PL, Burrello N, De Palma A, Conte N, Ragni N. Low total normal motile count values are associated with increased sperm disomy and diploidy rates in infertile patients. Int J Androl 2005;28:328-336.
5. Blackwell JM, Zaneveld LJD. Effect of abstinence on sperm acrosin, hypoosmotic swelling, and other semen variables, Fertil Steril 1992; 58:798-802.
6. Calogero AE, De Palma A, Grazioso C, Barone N, Romeo R, Rappazzo G, D'Agata R. Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod 2001; 16:1172-1179.
7. Carrell D, Emery BR. Use of automated imaging and analysis technology for the detection of aneuploidy in human sperm, Fertil Steril 2008; 90:434-437.
8. Carrell DT, Wilcox AL, Lowy L, Peterson CM, Jones KP, Erickson L, Campbell B, Branch DW, Hatasaka HH. Elevated sperm chromosome aneuploidy and apoptosis in patients with unexplained recurrent pregnancy loss. Obstet Gynecol 2003; 101:1229-1235.
9. Collodel G, Capitani S, Baccetti B, Pammolli A, Moretti E. Sperm aneuploidies and low progressive motility. Hum Reprod 2007; 22:1893-1898.
10. Colombero LT, Hariprashad JJ, Tsai MC, Rosenwaks Z, Palermo GD. Incidence of sperm aneuploidy in relation to semen characteristics and assisted reproductive outcome, Fertil and Steril 1999;72:90-96.
11. de Kretser DM. Male infertility. Lancet 1997;349:787-790.
12. Diemer T, Desjardins C. Developmental and genetic disorders in spermatogenesis. Hum Reprod Update 1999;5:120-140.
13. Dohle GR, Halley DJJ, Van Hemel JO, van den Ouwel AMW, Pieters M, Weber RFA, Govaerts LCP. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 2002; 17:13-16.
14. Faure AK, Aknin-Seifer I, Frerot G, Pelletier R, De Robertis C, Cans C, Levy R, Jimenez C, Lejeune H, Terrier N et al. Predictive factors for an increased risk of sperm aneuploidies in oligo-astheno-teratozoospermic males. Int J Androl 2007;30:153-162.
15. Ferguson KA, Wong EC, Chow V, Nigro M, Ma S. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy. Hum Mol Genet 2007; 16:2870-2879.
16. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: role of genetic background. Reprod Biomed Online 2007; 14:734-745.
17. Finkelstein S, Mukamel E, Yavetz H, Paz G, Avivi L. Increased rate of nondisjunction in sex cells derived from low-quality semen. Hum Genet 1998; 102:129-137.
18. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226-239.
19. Georgiou I, Syrrou M, Pardalidis N, Karakitsios K, Mantzavinos T, Giotitsas N, Loutradis D, Dimitriadis F, Saito M, Miyagawa I et al. Genetic and epigenetic risks of intracytoplasmic sperm injection method. Asian l Androl 2006;8:643-673.
20. Gianaroli L, Magli MC, Ferraretti AP, Munne S, Balicchia B, Escudero T, Crippa A. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002; 17:3201-3207.
21. Griffin DK, Abruzzo MA, Millie EA, Sheean LA, Feingold E, Sherman SL, Hassold TJ. Nondisjunction in human sperm\evidence for an effect of increasing paternal age. Hum Mol Genet 1995;4:2227-2232.
22. Griffin DK, Abruzzo MA, Millie EA, Feingold E, Hassold TJ. Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am J Hum Genet 1996;59:l108-1113.
23. Guttenbach M, Martinez Exposito MJ, Michelmann HW, Engel W, Schmid M. Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod 1997; 12:468-473.
24. Guzick DS, Overstreet JW, Factor-Litvak P, Brazil CK, Nakajima ST, Coutifaris C, Carson SA, Cisneros P, Steinkampf MP, Hill JA et al. Sperm morphology, motility, and concentration in fertile and infertile men. New Englj Med 2001;345:1388-1393.
25. Harkonen K, Suominen J, Lahdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl 2001;24:197-205.
26. Hassan MAM, Killick SR. Effect of male age on fertility: evidence for the decline in male fertility with increasing age. Fertil Steril 2003; 79:1520-1527.
27. Hassold TJ, Sherman SL, Pettay D, Page DC, Jacobs PA. xy-chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet 1991;49:253-260.
28. Hirsh A. ABCs of subfertility\male subfertility. Br Med J 2003; 327:669A-673A
29. Hristova R, Ko E, Greene C, Rademaker A, Chernos J, Martin R. Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. Biol Reprod 2002;66:1781-1783.
30. Johannisson R, Leuschner E, Huppe M, Hinrichs F, Al-Hasani S, Diedrich K, Schwinger E, Mennicke K. Increased frequency of x-bearing sperm in males from an infertility clinic: analysis by two-color fluorescence in situ hybridization. Cytogenet Genome Res 2002;98:240-244.
31. Kruger TF, Acosta AA, Simmons KF, Swanson RJ, Matta JF, Oehninger S. Predictive value of abnormal sperm morphology in in vitro fertilization. Fertil Steril 1988;49:l 12-117.
32. Levsky JM, Singer RH. Fluorescence in situ hybridization: past, present and future. J Cell Sci 2003; 116:2833-2838.
33. Machev N, Gosset P, Viville S. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia. Cytogenet Genome Res 2005;111:352-357.
34. Mak V, Jarvi KA. The genetics of male infertility, j Urol 1996; 156:1245-1256.
35. Martin RH, Spriggs E, Rademaker AW. Multicolor fluorescence in situ hybridization analysis of aneuploidy and diploidy frequencies in 225846 sperm from 10 normal men. Biol Reprod 1996;54:394-398.
36. Martin RH, Greene C, Rademaker A, Barclay L, Ko E, Chernos J. Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia. Hum Reprod 2000; 15:1121-1124.
37. Martin RH, Rademaker AW, Greene C, Ko E, Hoang T, Barclay L, Chernos J. A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia. Biol Reprod 2003;69:535-539.
38. Meschede D, Lemcke B, Exeler JR, De Geyter C, Behre HM, Nieschlag E, Horst J. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection\prevalence, types, sex distribution and reproductive relevance. Hum Reprod 1998; 13:576-582.
39. Miharu N. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: oligozoospermia. Cytogenet Genome Res 2005;111:347-351.
40. Miharu N, Best RG, Young SR. Numerical chromosome-abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in-situ hybridization. Hum Genet 1994;93:502-506.
41. Molina O, Sarrate Z, Vidal F, Blanco J. FISH on sperm: spot-counting to stop counting? Not yet. Feetil Steril 2009;92:1474-1480.
42. Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH. Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in-situ hybridization. Feetil Steeil 1995;64:811-817.
43. Nishikawa N, Murakami I, Ikuta K, Suzumori K. Sex chromosomal analysis of spermatozoa from infertile men using fluorescence in situ hybridization. J Assist Reprod Gen 2000; 17:97-102.
44. O'Brien KLO, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Feetil Steeil 2010;93:1-12.
45. Ohashi Y, Miharu N, Honda H, Samura O, Ohama K. High frequency of xy disomy in spermatozoa of severe oligozoospermic men. Hum Reprod 2001; 16:703-708.
46. Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, Kearns WG. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, II, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod 1999; 14:1266-1273.
47. Perry MJ, Chen X, Lu X Automated scoring of multiprobe fish in human spermatozoa. Cytometry A 2007;71A:968-972.
48. Perry MJ, Xing C, McAuliffe ME, Maity A, Deloid GM. Semi-automated scoring of triple-probe FISH in human sperm: methods and further validation. Cytometry A 2011;79A:66I-666.
49. Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, Mace B. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet 1999; 105:266-272.
50. Schmid TE, Kamischke A, Bollwein H, Nieschlag E, Brinkworth MH. Genetic damage in oligozoospermic patients detected by fluorescence in-situ hybridization, inverse restriction site mutation assay, sperm chromatin structure assay and the comet assay. Hum Reprod 2003; 18:1474-1480.
51. Shi QH, Martin RH. Aneuploidy in human spermatozoa: fish analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 2001; 121:655-666.
52. Sun F, Ko E, Martin RH. Is there a relationship between sperm chromosome abnormalities and sperm morphology? Reprod Biol Endocrin 2006;4:1-5.
53. Tempest HG, Griffin DK. The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 2004; 107:83-94.
54. Tempest HG, Homa ST, Dalakiouridou M, Christopikou D, Wright D, Zhai XP, Griffin DK. The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs. Reprod Biol Endocrinol 2004; 2:82.
55. Tempest HG, Cheng SY, Gillott DJ, Handyside AH, Thornhill AR, Griffin DK. Scoring of sperm chromosomal abnormalities by manual and automated approaches: qualitative and quantitative comparisons. Asian jAndrol 2010; 12:257-262.
56. Templado C, Hoang T, Greene C, Rademaker A, Chernos J, Martin R. Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev 2002;61:200-204.
57. Tiido T, Rignell-Hydbom A, Jonsson B, Giwercman YL, Rylander L, Hagmar L, Giwercman A. Exposure to persistent organochlorine pollutants associates with human sperm y: X chromosome ratio. Hum Reprod 2005;20:1903-1909.
58. Ushijima C, Kumasako Y, Kihaile PE, Hirotsuru K, Utsunomiya T Analysis of chromosomal abnormalities in human spermatozoa using multi-colour fluorescence in-situ hybridization. Hum Reprod 2000; 15:1107-1111.
59. Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, Liebaers I, Van Steirteghem A. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod 2000; 15:351-365.
60. Vine MF. Smoking and male reproduction: a review. Int J Androl 1996; 19:323-337.
61. Vogt PH. Human chromosome deletions in yq11, azf candidate genes and male infertility: history and update. Mol Hum Reprod 1998; 4:739-744.
62. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th edn. New York: Cambridge University Press, 1999.
63. Wyrobek AJ. The genetic contribution of sperm: healthy baby or not? Sci Technol Rev 1995;7-19.
64. https://www.llnl.g0v/str/pdfs/l1-95.pdf