Skip to main content
SpringerLink
Log in

Unexplained Couple Infertility (Male Role)

  • Chapter
  • First Online:
Clinical Management of Male Infertility

  • 1429 Accesses

Abstract

Unexplained male infertility (UMI), the inability to reproduce despite having a normal sexual history, physical examination, and semen analysis may be genetic. Robertsonian translocations, somatic gene mutations, mitochondrial gene mutations, sperm aneuploidy, and histone (epigenetic) modifications are regarded as putative causes of UMI. Karyotyping, fluorescence in situ hybridization, gene sequencing, comparative genomic hybridization array, whole-genome sequencing, and noncoding ribonucleic acid arrays are all diagnostic tools that, unfortunately, are not widely available at present. The only therapy for UMI is assisted reproduction.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 54.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Hamada A, Esteves SC, Nizza M, Agarwal A (2012) Unexplained male infertility: diagnosis and management. Int Braz J Urol 38:576–594

    Article  PubMed  Google Scholar 

  2. Sigman M, Lipshultz L, Howard S (2009) Office evaluation of the subfertile male. In: Lipshultz LI, Howards SS, Niederberger CS (eds) Infertility in the male, 4th edn. Cambridge University Press, Cambridge, pp 153–176

    Chapter  Google Scholar 

  3. Aitken RJ, Koopman P, Lewis SE (2004) Seeds of concern. Nature 432:48–52

    Article  PubMed  CAS  Google Scholar 

  4. Esteves SC, Zini A, Aziz N, Alvarez JG, Sabanegh ES Jr, Agarwal A (2012) Critical appraisal of world health organization’s new reference values for human semen characteristics and effect on diagnosis and treatment of subfertile men. Urology 79:16–22

    Article  PubMed  Google Scholar 

  5. Hamada A, Esteves SC, Agarwal A (2012) Genetics and male infertility. In: Dubey AK (ed) Infertility, diagnosis, management and IVF, 1st edn. Jaypee Medical Publishers Inc., New Delhi, pp 113–157

    Chapter  Google Scholar 

  6. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S (2002) Recent segmental duplications in the human genome. Science 297:1003–1007

    Article  PubMed  CAS  Google Scholar 

  7. Hargreave TB (2000) Genetic basis of male fertility. Br Med Bull 56:650–671

    Article  PubMed  CAS  Google Scholar 

  8. Matzuk MM, Lamb DJ (2002) Genetic dissection of mammalian fertility pathways. Nat Cell Biol 4:41–49

    Article  Google Scholar 

  9. Georgiou I, Syrrou M, Pardalidis N, Karakitsios K, Mantzavinos T, Giotitsas N et al (2006) Genetic and epigenetic risks of intracytoplasmic sperm injection method. Asian J Androl 8:643–673

    Article  PubMed  Google Scholar 

  10. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C (2007) Male infertility: role of genetic background. Reprod Biomed Online 14:734–745

    Article  PubMed  CAS  Google Scholar 

  11. Dada R, Thilagavathi J, Venkatesh S, Esteves SC, Agarwal A (2011) Genetic testing in male infertility. Open Reprod Sci J 3:42–56

    Article  CAS  Google Scholar 

  12. Conn CM, Cozzi J, Harper JC, Winston RM, Delhanty JD (1999) Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 36:45–50

    PubMed  CAS  PubMed Central  Google Scholar 

  13. Lishko PV, Kirichok Y (2010) The role of Hv1 and CatSper channels in sperm activation. J Physiol 588:4667–4672

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  14. Carlson AE, Burnett LA, del Camino D, Quill TA, Hille B, Chong JA (2009) Pharmacological targeting of native CatSper channels reveals a required role in maintenance of sperm hyperactivation. PLoS One 4:e6844

    Article  PubMed  PubMed Central  Google Scholar 

  15. Esteves SC, Verza S Jr (2011) Relationship of in vitro acrosome reaction to sperm function: an update. Open Reprod Sci J 3:72–84

    Article  CAS  Google Scholar 

  16. Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J (2010) Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet 18:1178–1184

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  17. Venkatesh S, Deecaraman M, Kumar R, Shamsi MB, Dada R (2009) Role of reactive oxygen species in the pathogenesis of mitochondrial DNA (mtDNA) mutations in male infertility. Indian J Med Res 129:127–137

    PubMed  CAS  Google Scholar 

  18. Richter C, Suter M, Walter PB (1998) Mitochondrial free radical damage and DNA repair. Biofactors 7:207–208

    Article  PubMed  CAS  Google Scholar 

  19. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29:261–262

    Article  PubMed  CAS  Google Scholar 

  20. Jensen M, Leffers H, Petersen JH, Nyboe Andersen A, Jørgensen N, Carlsen E (2004) Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod 19:65–70

    Article  PubMed  Google Scholar 

  21. Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH (1995) Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril 64:811–817

    PubMed  CAS  Google Scholar 

  22. Tempest HG, Martin RH (2009) Cytogenetic risks in chromosomally normal infertile men. Curr Opin Obstet Gynecol 21:223–227

    Article  PubMed  Google Scholar 

  23. Carrell DT, Emery BR, Hammoud S (2007) Altered protamine expression and diminished spermatogenesis: what is the link? Hum Reprod Update 13:313–327

    Article  PubMed  CAS  Google Scholar 

  24. Nanassy L, Carrell DT (2008) Paternal effects on early embryogenesis. J Exp Clin Assist Reprod 5:2

    Article  PubMed  PubMed Central  Google Scholar 

  25. Fushimi K, Ray P, Kar A, Wang L, Sutherland LC et al (2008) Up-regulation of the proapoptotic caspase 2 splicing isoform by a candidate tumor suppressor, RBM5. Proc Natl Acad Sci U S A 105:15708–15713. doi:10.1073/pnas.0805569105

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  26. Bonnal S, Martinez C, Forch P, Bachi A, Wilm M et al (2008) RBM5/Luca-15/H37 regulates Fas alternative splice site pairing after exon definition. Mol Cell 32:81–95

    Article  PubMed  CAS  Google Scholar 

  27. O’Bryan MK, Clark BJ, McLaughlin EA, D’Sylva RJ, O’Donnell L et al (2013) RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility. PLoS Genet 9(7):e1003628

    Article  PubMed  PubMed Central  Google Scholar 

  28. Babu A, Agarwal AK, Verma S (1998) A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases. Am J Hum Genet 42:60–65

    Google Scholar 

  29. Brothman AR, Schneider NR, Saikevych I, Cooley LD, Butler MG, Patil S, Mascarello JT, Rao KW, Dewald GW, Park JP, Persons DL, Wolff DJ, Vance GH, Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics (2006) Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med 130:947–949

    PubMed  CAS  Google Scholar 

  30. Sahin FI, Yilmaz Z, Yuregir OO, Bulakbasi T, Ozer O, Zeyneloglu HB (2008) Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet 25:191–195

    Article  PubMed  PubMed Central  Google Scholar 

  31. Esteves SC (2013) A clinical appraisal of the genetic basis in unexplained male infertility. J Hum Reprod Sci 6:176–182

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Andrological Section, Gynepro-Medical Team, via Tranquillo Cremona 8, Bologna, 40137, Italy

    Giorgio Cavallini

Authors
  1. Giorgio Cavallini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giorgio Cavallini .

Editor information

Editors and Affiliations

  1. Andrological Unit, Gynepro Medical Team, Bologna, Italy

    Giorgio Cavallini

  2. Andrological and Reproductive Medicine Unit, Centro Demetra, Firenze, Italy

    Giovanni Beretta

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Cavallini, G. (2015). Unexplained Couple Infertility (Male Role). In: Cavallini, G., Beretta, G. (eds) Clinical Management of Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-319-08503-6_11

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-08503-6_11

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-08502-9

  • Online ISBN: 978-3-319-08503-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation