Recent advances in the genetics of testicular failure

Asian Journal of Andrology

Volumn 18, Issue 3, 2016, Pages 350-355

  Song, Seung Hun ^a   Chiba, Koji ^a   Ramasamy, Ranjith ^b   Lamb, Dolores J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

azoospermia; genetics; male infertility; testicular failure

Indexed keywords

AZOOSPERMIA; CHROMOSOME TRANSLOCATION; GENETIC ANALYSIS; HEREDITY; HUMAN; MALE; MALE INFERTILITY; OLIGOSPERMIA; REVIEW; SEX CHROMOSOME ABERRATION; SPERMATOGENESIS; TESTICULAR FAILURE; Y CHROMOSOME; ABNORMALITIES; CHROMOSOME DELETION; DISORDER OF SEX DEVELOPMENT; GENE TRANSLOCATION; GENETICS; HYPOGONADISM; HYPOPITUITARISM; KALLMANN SYNDROME; KLINEFELTER SYNDROME; TESTIS DISEASE; UROGENITAL TRACT DISEASE; VAS DEFERENS;

AZOOSPERMIA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; HUMANS; HYPOGONADISM; HYPOPITUITARISM; INFERTILITY, MALE; KALLMANN SYNDROME; KLINEFELTER SYNDROME; MALE; MALE UROGENITAL DISEASES; OLIGOSPERMIA; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT; TESTICULAR DISEASES; TRANSLOCATION, GENETIC; VAS DEFERENS;

EID: 84969776713     PISSN: 1008682X     EISSN: 17457262     Source Type: Journal    
DOI: 10.4103/1008-682X.178857     Document Type: Review

References (82)

1. Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011; 25: 271-85.
2. Berookhim BM, Schlegel PN. Azoospermia due to spermatogenic failure. Urol Clin North Am 2014; 41: 97-113.
3. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, et al. Male infertility: role of genetic background. Reprod Biomed Online 2007; 14: 734-45.
4. Aston KI. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology 2014; 2: 315-21.
5. Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008; 14: 1197-213.
6. Lipshultz LI, Lamb DJ. Risk of transmission of genetic diseases by assisted reproduction. Nat Clin Pract Urol 2007; 4: 460-1.
7. Boulet SL, Mehta A, Kissin DM, Warner L, Kawwass JF, et al. Trends in use of and reproductive outcomes associated with intracytoplasmic sperm injection. JAMA 2015; 313: 255-63.
8. Silber SJ, Repping S. Transmission of male infertility to future generations: lessons from the Y chromosome. Hum Reprod Update 2002; 8: 217-29.
9. O′Flynn O′Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Fertil Steril 2010; 93: 1-12.
10. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl 2012; 14: 40-8.
11. Oates RD. The genetic basis of male reproductive failure. Urol Clin North Am 2008; 35: 257-70.
12. Brugh VM 3 rd, Maduro MR, Lamb DJ. Genetic disorders and infertility. Urol Clin North Am 2003; 30: 143-52.
13. 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.
14. Barr ML. The natural history of Klinefelter′s syndrome. Fertil Steril 1966; 17: 429-41.
15. Becker KL, Hoffman DL, Underdahl LO, Mason HL. Klinefelter′s syndrome. Clinical and laboratory findings in 50 patients. Arch Intern Med 1966; 118: 314-21.
16. Oates RD. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003; 24: 49-50.
17. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 1: 42.
18. Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod 2010; 25: 588-97.
19. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter′s syndrome. Lancet 2004; 364: 273-83.
20. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome - A clinical update. J Clin Endocrinol Metab 2013; 98: 20-30.
21. Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 1974; 37: 359-76.
22. Rives N, Milazzo JP, North MO, North MO, Sibert L, et al. From spermatocytes to spermatozoa in an infertile XYY male. Int J Androl 2005; 28: 304-10.
23. El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47, XYY: four case reports. Cases J 2009; 2: 28.
24. Wong EC, Ferguson KA, Chow V, Ma S. Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male. Hum Reprod 2008; 23: 374-8.
25. Abdel-Razic MM, Abdel-Hamid LA, Elsobky ES. Nonmosaic 47, XYY syndrome presenting with male infertility: case series. Andrologia 2012; 44: 200-4.
26. Speed RM, Faed MJ, Batstone PJ, Baxby K, Barnetson W. Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet 1991; 87: 416-20.
27. de la Chapelle A. Nature and origin of males with XX sex chromosomes. Am J Hum Genet 1972; 24: 71-105.
28. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, et al. SRY-negative 46, XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006; 12: 341-6.
29. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14: 379-90.
30. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, et al. Cytogenetics of infertile men. Hum Reprod 1996; 11: 1-24.
31. Antonelli A, Gandini L, Petrinelli P, Marcucci L, Elli R, et al. Chromosomal alterations and male infertility. J Endocrinol Invest 2000; 23: 677-83.
32. Ozawa N, Maruyama T, Nagashima T, Ono M, Arase T, et al. Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. Fertil Steril 2008; 90: 1301-4.
33. Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb) 2001; 4: 168-71.
34. Carrell DT. The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises. J Androl 2008; 29: 124-33.
35. Vogt PH. Human chromosomedeletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod 1998; 4: 739-44.
36. Kleiman SE, Almog R, Yogev L, Hauser R, Lehavi O, et al. Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?. Fertil Steril 2012; 98: 43-7.
37. Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?. Hum Reprod 2000; 15: 1431-4.
38. Longepied G, Saut N, Aknin-Seifer I, Levy R, Frances AM, et al. Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum Reprod 2010; 25: 2655-63.
39. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, et al. Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997; 67: 542-7.
40. Reijo R, Alagappan RK, Patrizio P, Page DC. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996; 347: 1290-3.
41. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119-24.
42. Repping S, Skaletsky H, Lange J, Silber S, van der Veen F, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71: 906-22.
43. Bachtrog D. Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration. Nat Rev Genet 2013; 14: 113-24.
44. Vogt PH. Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online 2005; 10: 81-93.
45. Tyler-Smith C. An evolutionary perspective on Y chromosomal variation and male infertility. Int J Androl 2008; 31: 376-82.
46. Blagosklonova O, Fellmann F, Clavequin MC, Roux C, Bresson JL. AZFa deletions in Sertoli cell-only syndrome: a retrospective study. Mol Hum Reprod 2000; 6: 795-9.
47. Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, et al. Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med 2009; 360: 881-5.
48. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423: 825-37.
49. Elliott DJ. The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis. Int J Androl 2004; 27: 328-34.
50. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10: 383-93.
51. Lepretre AC, Patrat C, Mitchell M, Jouannet P, Bienvenu T. No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men. J Assist Reprod Genet 2005; 22: 141-8.
52. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, et al. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 2000; 67: 256-67.
53. Lardone MC, Parodi DA, Ebensperger M, Penaloza P, Cornejo V, et al. AZFc partial deletions in Chilean men with severe spermatogenic failure. Fertil Steril 2007; 88: 1318-26.
54. Calogero AE, Garofalo MR, Barone N, De Palma A, Vicari E, et al. Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: case report. Hum Reprod 2001; 16: 1845-8.
55. Song SH, Bak CW, Lim JJ, Yoon TK, Lee DR, et al. Natural course of severe oligozoospermia in infertile male: influence on future fertility potential. J Androl 2010; 31: 536-9.
56. Kim SW, Kim KD, Paick JS. Microdeletions within the azoospermia factor subregions of the Y chromosome in patients with idiopathic azoospermia. Fertil Steril 1999; 72: 349-53.
57. Zhang F, Lu C, Li Z, Xie P, Xia Y, et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J Med Genet 2007; 44: 437-44.
58. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, et al. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003; 18: 1660-5.
59. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007; 92: 762-70.
60. Suganthi R, Vijesh VV, Vandana N, Fathima Ali Benazir J. Y choromosomal microdeletion screening in the workup of male infertility and its current status in India. Int J Fertil Steril 2014; 7: 253-66.
61. Liow SL, Yong EL, Ng SC. Prognostic value of Y deletion analysis: how reliable is the outcome of Y deletion analysis in providing a sound prognosis?. Hum Reprod 2001; 16: 9-12.
62. Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-The-Art 2013. Andrology 2014; 2: 5-19.
63. Bianco SD, Kaiser UB. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol 2009; 5: 569-76.
64. Bhagavath B, Layman LC. The genetics of hypogonadotropic hypogonadism. Semin Reprod Med 2007; 25: 272-86.
65. Kelberman D, Dattani MT. Hypopituitarism oddities: congenital causes. Horm Res 2007; 68 Suppl 5: 138-44.
66. Wu SM, Chan WY. Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. Arch Med Res 1999; 30: 495-500.
67. Yu J, Chen Z, Ni Y, Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-Analysis. Hum Reprod 2012; 27: 25-35.
68. Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 1994; 15: 1-8.
69. Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am J Respir Crit Care Med 2000; 162: 1919-24.
70. Strausbaugh SD, Davis PB. Cystic fibrosis: a review of epidemiology and pathobiology. Clin Chest Med 2007; 28: 279-88.
71. Phillipson GT, Petrucco OM, Matthews CD. Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection. Hum Reprod 2000; 15: 431-5.
72. Popli K, Bourke S, Stewart J. Fertility issues in men with cystic fibrosis: survey of knowledge and opinion of patients. Fertil Steril 2009; 91: 1297-8.
73. Hochstenbach R, Hackstein JH. The comparative genetics of human spermatogenesis: clues from flies and other model organisms. Results Probl Cell Differ 2000; 28: 271-98.
74. Agarwal A, Virk G, Ong C, du Plessis SS. Effect of oxidative stress on male reproduction. World J Mens Health 2014; 32: 1-17.
75. Krausz C, Escamilla AR, Chianese C. Genetics of male infertility: from research to clinic. Reproduction 2015; 150: R159-74.
76. Lin YH, Lin YM, Teng YN, Hsieh TY, Lin YS, et al. Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue. Fertil Steril 2006; 86: 1650-8.
77. Ellis PJ, Furlong RA, Conner SJ, Kirkman-Brown J, Afnan M, et al. Coordinated transcriptional regulation patterns associated with infertility phenotypes in men. J Med Genet 2007; 44: 498-508.
78. He Z, Chan WY, Dym M. Microarray technology offers a novel tool for the diagnosis and identification of therapeutic targets for male infertility. Reproduction 2006; 132: 11-9.
79. Metzker ML. Sequencing technologies - The next generation. Nat Rev Genet 2010; 11: 31-46.
80. Grant SF, Hakonarson H. Microarray technology and applications in the arena of genome-wide association. Clin Chem 2008; 54: 1116-24.
81. Bier FF, von Nickisch-Rosenegk M, Ehrentreich-Förster E, Reiss E, Henkel J, et al. DNA microarrays. Adv Biochem Eng Biotechnol 2008; 109: 433-53.
82. Aston KI, Carrell DT. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009; 30: 711-25.