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Génétique et infertilité masculine

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Physiologie, pathologie et thérapie de la reproduction chez l’humain

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Résumé

L’infertilité peut être considérée comme une maladie multifactorielle qui touche aujourd’hui plus de 15% des couples. Dans un tiers des cas, une cause purement féminine est retrouvée, dans 21% des cas une cause uniquement masculine, et une cause à la fois féminine et masculine est objectivée dans 39% des cas. Enfin, dans 7% des cas, aucune cause n’est trouvée (infertilité inexpliquée dite idiopathique) (1).

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Références

  1. Thonneau P, Marchand S, Tallec A et al. (1991) Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988–1989). Hum Reprod 6:811–816

    PubMed  CAS  Google Scholar 

  2. Koulischer L, Schoysman R (1975) Studies of the mitotic and meiotic chromosomes in infertile males. J Genet Hum 23 Suppl: 58–70

    PubMed  Google Scholar 

  3. Bourrouillou G, Mansat A, Calvas P et al. (1987) Chromosome anomalies and male infertility. A study of 1,444 subjects. Bull Assoc Anat 71:29–31

    CAS  Google Scholar 

  4. Retief AE, Van Zyl JA, Menkveld R et al. (1984) Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 66:162–164

    Article  PubMed  CAS  Google Scholar 

  5. Hens L, Bonduelle M, Liebaers I et al. (1988) Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment. Hum Reprod 3:451–457

    PubMed  CAS  Google Scholar 

  6. Staessen C, Coonen E, Van Assche E et al. (1996) Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum Reprod 11:1650–1653

    PubMed  CAS  Google Scholar 

  7. Klinefelter HF, Reifenstein EC, Albright F (1942) Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle stimulating hormone. J Clin Endocrinol 2:615–627

    Article  CAS  Google Scholar 

  8. Nielsen J, Wohlert M (1991) Chromosome abnormalities found among 34, 910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87:81–83

    Article  PubMed  CAS  Google Scholar 

  9. Guichaoua MR, Delafontaine D, Noel B, Luciani JM (1993) Male infertility of chromosomal origin. Contracept Fertil Sex 21:113–121

    PubMed  CAS  Google Scholar 

  10. Laron Z, Dickerman Z, Zamir R, Galatzer A (1982) Paternity in Klinefelter’s syndrome—a case report. Arch Androl 8:149–151

    Article  PubMed  CAS  Google Scholar 

  11. Terzoli G, Lalatta F, Lobbiani A et al. (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821–822

    PubMed  CAS  Google Scholar 

  12. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364: 273-283.

    Article  Google Scholar 

  13. Tournaye H, Staessen C, Liebaers I et al. (1996) Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod 11:1644–1649

    PubMed  CAS  Google Scholar 

  14. Tilgen N, Guttenbach M, Schmid M (2001) Heterochromatin is not an adequate explanation for close proximity of interphase chromosomes 1—Y, 9—Y, and 16—Y in human spermatozoa. Exp Cell Res 265:283–287

    Article  PubMed  CAS  Google Scholar 

  15. Estop AM, Munne S, Cieply KM et al. (1998) Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum Reprod 13:124–127

    Article  PubMed  CAS  Google Scholar 

  16. Bergere M, Wainer R, Nataf V et al. (2002) Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod 17:32–37

    Article  PubMed  Google Scholar 

  17. Mroz K, Hassold TJ, Hunt PA (1999) Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod 14:1151–1156

    Article  PubMed  CAS  Google Scholar 

  18. Staessen C, Tournaye H, Van Assche E et al. (2003) PGD in 47,XXY Klinefelter’s syndrome patients. Hum Reprod Update 9:319–330

    Article  PubMed  CAS  Google Scholar 

  19. Kahraman S, Sertyel S, Findikli N et al. (2004) Effect of PGD on implantation and ongoing pregnancy rates in cases with predominantly macrocephalic spermatozoa. Reprod Biomed Online 9:79–85

    Article  PubMed  CAS  Google Scholar 

  20. Bache I, Assche EV, Cingoz S et al. (2004) An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 12:993–1000

    Article  PubMed  CAS  Google Scholar 

  21. Benet J, Oliver-Bonet M, Cifuentes P et al. (2005) Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 111:281–290

    Article  PubMed  CAS  Google Scholar 

  22. Roux C, Tripogney C, Morel F et al. (2005) Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res 111:291–296

    Article  PubMed  CAS  Google Scholar 

  23. Morel F, Laudier B, Guerif F et al. (2007) Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 22:136–141

    Article  PubMed  CAS  Google Scholar 

  24. Vialard F, Delanete A, Clement P et al. (2007) Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril 87:418–425

    PubMed  Google Scholar 

  25. Lindenbaum RH, Hulten M, McDermott A, Seabright M (1985) The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J Med Genet 22:24–28

    Article  PubMed  CAS  Google Scholar 

  26. Douet-Guilbert N, Bris MJ, Amice V et al. (2005) Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 28:372–379

    Article  PubMed  CAS  Google Scholar 

  27. Machev N, Gosset P, Warter S et al. (2005) Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril 84:365–373

    Article  PubMed  CAS  Google Scholar 

  28. Vialard F, Molina Gomes D, Roume J et al. (2009) Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier. Reprod Biomed Online 18:549–554

    Article  PubMed  CAS  Google Scholar 

  29. Vialard F, Guthauser B, Bailly M, et al. (2005) Le risque chromosomique pour un patient porteur d’une translocation t(X;2) concerne non seulement la translocation mais aussi la ségrégation XY. Andrologie 15:328–333

    Article  Google Scholar 

  30. Moradkhani K, Puechberty J, Bhatt S et al. (2006) Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases. Hum Reprod 21:1166–1171.

    Article  PubMed  CAS  Google Scholar 

  31. Anton E, Blanco J, Egozcue J, Vidal F (2005) Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res 111:297–304

    Article  PubMed  CAS  Google Scholar 

  32. Ferfouri F, Clement P, Gomes DM et al. (2009) Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes? Fertil Steril 92:1497 e1–1497 e4

    Article  Google Scholar 

  33. Bhatt S, Moradkhani K, Mrasek K et al. (2009) Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions. Eur J Hum Genet 17:44–50

    Article  PubMed  CAS  Google Scholar 

  34. Madan K (1995) Paracentric inversions: a review. Hum Genet 96:503–515

    Article  PubMed  CAS  Google Scholar 

  35. Calogero AE, Burrello N, De Palma A et al. (2003) Sperm aneuploidy in infertile men. Reprod Biomed Online 6:310–317

    Article  PubMed  CAS  Google Scholar 

  36. Petit FM, Frydman N, Benkhalifa M et al. (2005) Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection? J Androl 26:235–241

    PubMed  Google Scholar 

  37. Van Steirteghem A, Bonduelle M, Devroey P, Liebaers I (2002) Follow-up of children born after ICSI. Hum Reprod Update 8:111–116

    Article  PubMed  Google Scholar 

  38. Liebaers I, Bonduelle M, Van Assche E et al. (1995) Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet 346:1095

    Article  PubMed  CAS  Google Scholar 

  39. Rives N, Mousset-Simeon N, Sibert L et al. (2004) Chromosome abnormalities of spermatozoa. Gynecol Obstet Fertil 32:771–778

    PubMed  CAS  Google Scholar 

  40. Sermon K, Moutou C, Harper J et al. (2005) ESHRE PGD Consortium data collection IV: May-December 2001. Hum Reprod 20:19–34

    Article  PubMed  CAS  Google Scholar 

  41. Vogt PH, Edelmann A, Kirsch S et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943

    Article  PubMed  CAS  Google Scholar 

  42. Krausz C, Bussani-Mastellone C, Granchi S et al. (1999) Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod 14:1717–1721

    Article  PubMed  CAS  Google Scholar 

  43. Patrat C, Bienvenu T, Janny L et al. (2010) Clinical data and parenthood of 63 infertile and Y-microdeleted men. Fertil Steril 93:822–832

    Article  PubMed  Google Scholar 

  44. Chang PL, Sauer MV, Brown S (1999) Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14:2689–2694

    Article  PubMed  CAS  Google Scholar 

  45. Bienvenu T, Patrat C, McElreavey K et al. (2001) Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis. Ann Genet 44:125–128

    Article  PubMed  CAS  Google Scholar 

  46. Mandon-Pepin B, Touraine P, Kuttenn F et al. (2008) Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur J Endocrinol 158:107–115

    Article  PubMed  CAS  Google Scholar 

  47. Failly M, Saitta A, Munoz A et al. (2008) DNAI1 mutations explain only 2 % of primary ciliary dykinesia. Respiration 76:198–204

    Article  PubMed  CAS  Google Scholar 

  48. Loges NT, Olbrich H, Fenske L et al. (2008) DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 83:547–558

    Article  PubMed  CAS  Google Scholar 

  49. Bartoloni L, Blouin JL, Pan Y et al. (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 99:10282–10286

    Article  PubMed  CAS  Google Scholar 

  50. Failly M, Bartoloni L, Letourneau A et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet 46:281–286

    Article  PubMed  CAS  Google Scholar 

  51. Zhang Y, Malekpour M, Al-Madani N et al. (2007) Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet 44:233–240

    Article  PubMed  CAS  Google Scholar 

  52. Avidan N, Tamary H, Dgany O et al. (2003) CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet 11:497–502

    Article  PubMed  CAS  Google Scholar 

  53. Dam AH, Koscinski I, Kremer JA et al. (2007) Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 81:813–820

    Article  PubMed  CAS  Google Scholar 

  54. Viville S, Mollard R, Bach ML et al. (2000) Do morphological anomalies reflect chromosomal aneuploidies? case report. Hum Reprod 15:2563–2566

    Article  PubMed  CAS  Google Scholar 

  55. Guthauser B, Vialard F, Dakouane M et al. (2006) Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome. Fertil Steril 85:750 e5–750 e7

    Article  Google Scholar 

  56. Dieterich K, Soto Rifo R, Faure AK et al. (2007) Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 39:661–665

    Article  PubMed  CAS  Google Scholar 

  57. Dieterich K, Zouari R, Harbuz R et al. (2009) The Aurora Kinase C c.144delC mutation causes Meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet 18:1301–1309

    Article  PubMed  CAS  Google Scholar 

  58. Lourenco D, Brauner R, Lin L et al. (2009) Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360:1200–1210

    Article  PubMed  CAS  Google Scholar 

  59. Claustres M (2005) Molecular pathology of the CFTR locus in male infertility. Reprod Biomed Online 10:14–41

    Article  PubMed  CAS  Google Scholar 

  60. Stouffs K, Lissens W, Tournaye H et al. (2005) Possible role of USP26 in patients with severely impaired spermatogenesis. Eur J Hum Genet 13:336–340

    Article  PubMed  CAS  Google Scholar 

  61. Iguchi N, Yang S, Lamb DJ, Hecht NB (2006) An SNP in protamine 1: a possible genetic cause of male infertility? J Med Genet 43:382–384

    Article  PubMed  CAS  Google Scholar 

  62. Tanaka H, Miyagawa Y, Tsujimura A et al. (2003) Single nucleotide polymorphisms in the protamine-1 and-2 genes of fertile and infertile human male populations. Mol Hum Reprod 9:69–73

    Article  PubMed  CAS  Google Scholar 

  63. Miyagawa Y, Nishimura H, Tsujimura A et al. (2005) Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations. J Androl 26:779–786

    Article  PubMed  CAS  Google Scholar 

  64. Christensen GL, Ivanov IP, Atkins JF et al. (2005) Screening the SPO11 and EIF5A2 genes in a population of infertile men. Fertil Steril 84:758–760

    Article  PubMed  CAS  Google Scholar 

  65. Tronchon V, Vialard F, El Sirkasi M et al. (2008) Tumor necrosis factor-alpha −308 polymorphism in infertile men with altered sperm production or motility. Hum Reprod 23:2858–2866

    Article  PubMed  CAS  Google Scholar 

  66. Auger J, Kunstmann JM, Czyglik F, Jouannet P (1995) Decline in semen quality among fertile men in Paris during the past 20 years. N Engl J Med 332:281–285

    Article  PubMed  CAS  Google Scholar 

  67. Omezzine A, Chater S, Mauduit C et al. (2003) Long-term apoptotic cell death process with increased expression and activation of caspase-3 and-6 in adult rat germ cells exposed in utero to flutamide. Endocrinology 144:648–661

    Article  PubMed  CAS  Google Scholar 

  68. Plass C (2002) Cancer epigenomics. Hum Mol Genet 11:2479–2488

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Laboratoire d’histologie, embryologie, biologie de la reproduction, cytogénétique et génétique médicale EA2493, CHI Poissy-Saint-Germain, 10, rue du Champ Gaillard, 78303, Poissy cedex

    F. Vialard

  2. Service de biologie de la reproduction et cytogénétique, CHI Poissy-Saint-Germain, 10, rue du Champ Gaillard, 78105, Saint-Germain-en-Laye

    M. Albert

  3. EA2493, Université Versailles Saint-Quentin-en-Yvelines, Germain

    M. Albert

  4. Labo PMA Service de biologie de la reproduction et cytogénétique, CHI Poissy-Saint-Germain, 10, rue du Champ Gaillard, 78300, Poissy

    D. Molina Gomes, F. Ferfouri & J. Selva

  5. Laboratoire Clément, 8, avenue Henri-Barbusse 93150 Le Blanc Mesnil; 17, avenue d’Eylau, 75116, Paris

    P. Clément

  6. EA2493, Université Versailles Saint-Quentin-en-Yvelines Service de gynécologie obstétrique CHI Poissy-Saint-Germain, 10, rue du Champ Gaillard, 78303, Poissy Cedex

    M. Bailly

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Vialard, F. et al. (2011). Génétique et infertilité masculine. In: Physiologie, pathologie et thérapie de la reproduction chez l’humain. Springer, Paris. https://doi.org/10.1007/978-2-8178-0061-5_32

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  • DOI: https://doi.org/10.1007/978-2-8178-0061-5_32

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