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Causes of Male Infertility

Year 2020, Volume: 10 Issue: 3, 144 - 147, 24.12.2020
https://doi.org/10.26650/experimed.2020.0043

Abstract

Infertility is a global health problem and is defined as an inability to achieve a clinical pregnancy after 12 months of regular unpro-tected sexual intercourse. The global incidence of infertility is ap-proximately 8–12%, and half of these patients seek medical help for the condition. The use of assisted reproduction technology (ART) has been increasingly used worldwide, and advances in ART have enabled many couples to overcome infertility. Infertility can be related to female infertility, male infertility, a combination of the two or unexplained factors. Male infertility constitutes nearly half of all instances of infertility and affects approximately 7% of the male population. The initial evaluation of male infertility includes obtaining a detailed medical history, a physical examination, an endocrine assessment and semen analysis. Male infertility can be due to hormonal imbalances, genetic problems, physical causes, environmental lifestyle factors or psychological or behavioural factors. Also, advanced male age may affect the quality of sperm, which can lead to male infertility. In conclusion, the causes of male infertility are multifarious. The evaluation and management of male infertility during infertility treatment are of the utmost im-portance for couples.

References

  • 1. WHO. World Health Organisation (WHO) laboratory manual for the examination and processing of human semen Fifth edition. 2010.
  • 2. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem 2018; 62: 2-10. [CrossRef ]
  • 3. Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011; 25(2): 271-85. [CrossRef ]
  • 4. Esteves SC, Agarwal A. Novel concepts in male infertility. Int Braz J Urol 2011; 37(1): 5-15. [CrossRef ]
  • 5. Jenardhanan P, Panneerselvam M, Mathur PP. Effect of environ-mental contaminants on spermatogenesis. Semin Cell Dev Biol 2016; 59: 126-40. [CrossRef ]
  • 6. Stuppia L, Franzago M, Ballerini P, Gatta V, Antonucci I. Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health. Clin Epigenetics 2015; 7: 120. [CrossRef ]
  • 7. Horta F, Vollenhoven B, Healey M, Busija L, Catt S, Temple-Smith P. Male ageing is negatively associated with the chance of live birth in IVF/ICSI cycles for idiopathic infertility. Hum Reprod 2019; 34(12): 2523-32. [CrossRef ]
  • 8. Tuttelmann F, Ruckert C, Ropke A. Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of un-changed routine. Med Genet 2018; 30(1): 12-20. [CrossRef ]
  • 9. Cole LA. Chapter 18 - Human Male Spermatogenesis. In: Cole LA, editor. Biology of Life. Academic Press; 2016. p. 135-41. [CrossRef ]
  • 10. Ernst C, Eling N, Martinez-Jimenez CP, Marioni JC, Odom DT. Staged developmental mapping and X chromosome transcrip-tional dynamics during mouse spermatogenesis. Nat Commun 2019; 10(1): 1251. [CrossRef ]
  • 11. Fietz D, Bergmann M. Functional Anatomy and Histology of the Testis. In: Simoni M, Huhtaniemi I, editors. Endocrinology of the Testis and Male Reproduction. Cham: Springer International Pub-lishing; 2017. p. 1-29. [CrossRef ]
  • 12. Szmelskyj I, Aquilina L, Szmelskyj AO. Chapter 2 - Anatomy and physiology of the reproductive system: Prerequirements for conception. In: Szmelskyj I, Aquilina L, Szmelskyj AO, editors. Acupuncture for IVF and Assisted Reproduction. Churchill Living-stone; 2015. p. 23-58. [CrossRef ]
  • 13. Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Be-rardinis E, et al. Non-syndromic monogenic male infertility. Acta Biomed 2019; 90(10-S): 62-7. [CrossRef ]
  • 14. Milani DAQ, Tadi P. Genetics, Chromosome Abnormalities. Stat-Pearls [Internet]. StatPearls Publishing; 2020.
  • 15. Plaseska-Karanfilska D, Noveski P, Plaseski T, Maleva I, Madjunkova S, Moneva Z. Genetic causes of male infertility. Balkan J Med Gen-et 2012; 15(Suppl): 31-4. [CrossRef ]
  • 16. Dong Y, Du RC, Jiang YT, Wu J, Li LL, Liu RZ. Impact of chromosom-al translocations on male infertility, semen quality, testicular vol-ume and reproductive hormone levels. J Int Med Res 2012; 40(6): 2274-83. [CrossRef ]
  • 17. Kaiser-Rogers K, Rao KW. Structural Chromosome Rearrangements. In: Gersen SL, Keagle MB, editors. The Principles of Clinical Cytoge-netics. New York, NY: Springer New York; 2013. p. 139-74. [CrossRef ]
  • 18. Harton GL, Tempest HG. Chromosomal disorders and male infer-tility. Asian J Androl 2012; 14(1): 32-9. [CrossRef ]
  • 19. Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Acade-my of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2014; 2(1): 5-19. [CrossRef ]
  • 20. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006; 444(7118): 444-54. [CrossRef ]
  • 21. Thapar A, Cooper M. Copy number variation: what is it and what has it told us about child psychiatric disorders? J Am Acad Child Adolesc Psychiatry 2013; 52(8): 772-4. [CrossRef ]
  • 22. Miyamoto T, Minase G, Shin T, Ueda H, Okada H, Sengoku K. Hu-man male infertility and its genetic causes. Reprod Med Biol 2017; 16(2): 81-8. [CrossRef ]
  • 23. Okutman O, Rhouma MB, Benkhalifa M, Muller J, Viville S. Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet 2018; 35(11): 1939-51. [CrossRef ]
  • 24. Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman JA. Disease gene discovery in male infertility: past, present and future. Hum Gen-et 2020. https://doi.org/10.1007/s00439-020-02202-x [CrossRef ]
  • 25. Oud MS, Volozonoka L, Smits RM, Vissers L, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 2019; 34(5): 932-41. [CrossRef ]
  • 26. Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 2007; 39(5): 661-5. [CrossRef ]
  • 27. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makari-an J, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombina-tion hotspots. Hum Mol Genet 2012; 21(16): 3695-702. [CrossRef ]
  • 28. Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, et al. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet 2009; 18(7): 1301-9. [CrossRef ]
  • 29. Kuentz P, Vanden Meerschaut F, Elinati E, Nasr-Esfahani MH, Gur-gan T, Iqbal N, et al. Assisted oocyte activation overcomes fer-tilization failure in globozoospermic patients regardless of the DPY19L2 status. Hum Reprod 2013; 28(4): 1054-61. [CrossRef ]
  • 30. Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olsze-wska M, et al. X-linked TEX11 mutations, meiotic arrest, and azo-ospermia in infertile men. N Engl J Med 2015; 372(22): 2097-107. [CrossRef ]
  • 31. Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Pi-ton A, et al. Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 2015; 24(19): 5581-8. [CrossRef ]
  • 32. Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, et al. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet 2020; 107(2): 342-51. [CrossRef ]
  • 33. Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using tar-geted massively parallel sequencing. Clin Genet 2018; 93(2): 408-11. [CrossRef ]
  • 34. Lorenzi D, Fernandez C, Bilinski M, Fabbro M, Galain M, Menazzi S, et al. First custom next-generation sequencing infertility panel in Latin America: design and first results. JBRA Assist Reprod 2020; 24(2): 104-14. [CrossRef ]
  • 35. Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, et al. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identifica-tion of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Hum Reprod 2019; 34(6): 978-88. [CrossRef ]
  • 36. Rocca MS, Msaki A, Ghezzi M, Cosci I, Pilichou K, Celeghin R, et al. Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment. J Assist Re-prod Genet 2020; 37(4): 753-62. [CrossRef ]
  • 37. Choi WS, Kim SW. Current issues in varicocele management: a re-view. World J Mens Health 2013; 31(1): 12-20. [CrossRef ]
  • 38. Garcia-Velasco JA, Banker M, Shah R. Infertility Management Se-ries:Practical Management of Male Infertility. New Delhi, India: Jaypee Brothers Medical Publishers; 2015. [CrossRef ]
  • 39. Leaver RB. Male infertility: an overview of causes and treatment options. Br J Nurs 2016; 25(18): S35-S40. [CrossRef ]

Erkek İnfertilite Nedenleri

Year 2020, Volume: 10 Issue: 3, 144 - 147, 24.12.2020
https://doi.org/10.26650/experimed.2020.0043

Abstract

nfertilite dünya çapında bir sağlık sorunu olup, 12 aylık düzenli korunmasız cinsel ilişkiden sonra klinik bir hamilelik elde edeme-me olarak tanımlanmaktadır. Dünya çapında infertilitenin insidansı yaklaşık %8-12 olarak belirtilmekle birlikte hastaların yarısı bu du-rum için tıbbi yardım istemektedir. Yardımcı üreme teknolojisinin (YÜT) kullanımı dünya çapında giderek artmakla birlikte, YÜT’deki gelişmeler birçok çiftin infertilite sorunun üstesinden gelmesine izin vermiştir. İnfertilite, kadın infertilitesi, erkek infertilitesi, kadın ve erkek veya açıklanamayan faktörlerin bir kombinasyonu ile iliş-kili olabilmektedir. Erkek infertilitesi, tüm infertilite vakalarının ne-redeyse yarısını oluşturur ve erkek nüfusun yaklaşık %7'sini etkile-mektedir. Erkek infertilitesinin ilk değerlendirmesi, ayrıntılı bir tıbbi öykü, fizik muayene, endokrin değerlendirme ve semen analizini içermektedir. Erkek infertilitesi hormonal dengesizlikler, genetik problemler, fiziksel nedenler, çevresel yaşam tarzı faktörleri veya psikolojik veya davranışsal faktörlerden kaynaklanabileceği rapor-lanmıştır. Ayrıca, ileri erkek yaşı, sperm kalitesini etkileyerek erkek infertilitesine yol açabilir. Sonuç olarak, erkek infertilitesinin ne-denleri çok yönlüdür. İnfertilite tedavisi sırasında erkek infertilitesi-nin değerlendirilmesi ve yönetimi çiftler için son derece önemlidir.

References

  • 1. WHO. World Health Organisation (WHO) laboratory manual for the examination and processing of human semen Fifth edition. 2010.
  • 2. Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem 2018; 62: 2-10. [CrossRef ]
  • 3. Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011; 25(2): 271-85. [CrossRef ]
  • 4. Esteves SC, Agarwal A. Novel concepts in male infertility. Int Braz J Urol 2011; 37(1): 5-15. [CrossRef ]
  • 5. Jenardhanan P, Panneerselvam M, Mathur PP. Effect of environ-mental contaminants on spermatogenesis. Semin Cell Dev Biol 2016; 59: 126-40. [CrossRef ]
  • 6. Stuppia L, Franzago M, Ballerini P, Gatta V, Antonucci I. Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health. Clin Epigenetics 2015; 7: 120. [CrossRef ]
  • 7. Horta F, Vollenhoven B, Healey M, Busija L, Catt S, Temple-Smith P. Male ageing is negatively associated with the chance of live birth in IVF/ICSI cycles for idiopathic infertility. Hum Reprod 2019; 34(12): 2523-32. [CrossRef ]
  • 8. Tuttelmann F, Ruckert C, Ropke A. Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of un-changed routine. Med Genet 2018; 30(1): 12-20. [CrossRef ]
  • 9. Cole LA. Chapter 18 - Human Male Spermatogenesis. In: Cole LA, editor. Biology of Life. Academic Press; 2016. p. 135-41. [CrossRef ]
  • 10. Ernst C, Eling N, Martinez-Jimenez CP, Marioni JC, Odom DT. Staged developmental mapping and X chromosome transcrip-tional dynamics during mouse spermatogenesis. Nat Commun 2019; 10(1): 1251. [CrossRef ]
  • 11. Fietz D, Bergmann M. Functional Anatomy and Histology of the Testis. In: Simoni M, Huhtaniemi I, editors. Endocrinology of the Testis and Male Reproduction. Cham: Springer International Pub-lishing; 2017. p. 1-29. [CrossRef ]
  • 12. Szmelskyj I, Aquilina L, Szmelskyj AO. Chapter 2 - Anatomy and physiology of the reproductive system: Prerequirements for conception. In: Szmelskyj I, Aquilina L, Szmelskyj AO, editors. Acupuncture for IVF and Assisted Reproduction. Churchill Living-stone; 2015. p. 23-58. [CrossRef ]
  • 13. Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Be-rardinis E, et al. Non-syndromic monogenic male infertility. Acta Biomed 2019; 90(10-S): 62-7. [CrossRef ]
  • 14. Milani DAQ, Tadi P. Genetics, Chromosome Abnormalities. Stat-Pearls [Internet]. StatPearls Publishing; 2020.
  • 15. Plaseska-Karanfilska D, Noveski P, Plaseski T, Maleva I, Madjunkova S, Moneva Z. Genetic causes of male infertility. Balkan J Med Gen-et 2012; 15(Suppl): 31-4. [CrossRef ]
  • 16. Dong Y, Du RC, Jiang YT, Wu J, Li LL, Liu RZ. Impact of chromosom-al translocations on male infertility, semen quality, testicular vol-ume and reproductive hormone levels. J Int Med Res 2012; 40(6): 2274-83. [CrossRef ]
  • 17. Kaiser-Rogers K, Rao KW. Structural Chromosome Rearrangements. In: Gersen SL, Keagle MB, editors. The Principles of Clinical Cytoge-netics. New York, NY: Springer New York; 2013. p. 139-74. [CrossRef ]
  • 18. Harton GL, Tempest HG. Chromosomal disorders and male infer-tility. Asian J Androl 2012; 14(1): 32-9. [CrossRef ]
  • 19. Krausz C, Hoefsloot L, Simoni M, Tuttelmann F, European Acade-my of A, European Molecular Genetics Quality N. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2014; 2(1): 5-19. [CrossRef ]
  • 20. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006; 444(7118): 444-54. [CrossRef ]
  • 21. Thapar A, Cooper M. Copy number variation: what is it and what has it told us about child psychiatric disorders? J Am Acad Child Adolesc Psychiatry 2013; 52(8): 772-4. [CrossRef ]
  • 22. Miyamoto T, Minase G, Shin T, Ueda H, Okada H, Sengoku K. Hu-man male infertility and its genetic causes. Reprod Med Biol 2017; 16(2): 81-8. [CrossRef ]
  • 23. Okutman O, Rhouma MB, Benkhalifa M, Muller J, Viville S. Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet 2018; 35(11): 1939-51. [CrossRef ]
  • 24. Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman JA. Disease gene discovery in male infertility: past, present and future. Hum Gen-et 2020. https://doi.org/10.1007/s00439-020-02202-x [CrossRef ]
  • 25. Oud MS, Volozonoka L, Smits RM, Vissers L, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 2019; 34(5): 932-41. [CrossRef ]
  • 26. Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet 2007; 39(5): 661-5. [CrossRef ]
  • 27. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makari-an J, et al. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombina-tion hotspots. Hum Mol Genet 2012; 21(16): 3695-702. [CrossRef ]
  • 28. Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, et al. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet 2009; 18(7): 1301-9. [CrossRef ]
  • 29. Kuentz P, Vanden Meerschaut F, Elinati E, Nasr-Esfahani MH, Gur-gan T, Iqbal N, et al. Assisted oocyte activation overcomes fer-tilization failure in globozoospermic patients regardless of the DPY19L2 status. Hum Reprod 2013; 28(4): 1054-61. [CrossRef ]
  • 30. Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olsze-wska M, et al. X-linked TEX11 mutations, meiotic arrest, and azo-ospermia in infertile men. N Engl J Med 2015; 372(22): 2097-107. [CrossRef ]
  • 31. Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Pi-ton A, et al. Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. Hum Mol Genet 2015; 24(19): 5581-8. [CrossRef ]
  • 32. Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, et al. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. Am J Hum Genet 2020; 107(2): 342-51. [CrossRef ]
  • 33. Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using tar-geted massively parallel sequencing. Clin Genet 2018; 93(2): 408-11. [CrossRef ]
  • 34. Lorenzi D, Fernandez C, Bilinski M, Fabbro M, Galain M, Menazzi S, et al. First custom next-generation sequencing infertility panel in Latin America: design and first results. JBRA Assist Reprod 2020; 24(2): 104-14. [CrossRef ]
  • 35. Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, et al. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identifica-tion of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Hum Reprod 2019; 34(6): 978-88. [CrossRef ]
  • 36. Rocca MS, Msaki A, Ghezzi M, Cosci I, Pilichou K, Celeghin R, et al. Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment. J Assist Re-prod Genet 2020; 37(4): 753-62. [CrossRef ]
  • 37. Choi WS, Kim SW. Current issues in varicocele management: a re-view. World J Mens Health 2013; 31(1): 12-20. [CrossRef ]
  • 38. Garcia-Velasco JA, Banker M, Shah R. Infertility Management Se-ries:Practical Management of Male Infertility. New Delhi, India: Jaypee Brothers Medical Publishers; 2015. [CrossRef ]
  • 39. Leaver RB. Male infertility: an overview of causes and treatment options. Br J Nurs 2016; 25(18): S35-S40. [CrossRef ]
There are 39 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Review
Authors

Münevver Serdaroğulları This is me 0000-0001-5196-297X

Publication Date December 24, 2020
Submission Date August 13, 2020
Published in Issue Year 2020 Volume: 10 Issue: 3

Cite

Vancouver Serdaroğulları M. Causes of Male Infertility. Experimed. 2020;10(3):144-7.