Vol 71, No 6 (2020)
Review paper
Published online: 2020-12-29

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Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Katarzyna Jankowska1, Anna Kutkowska-Kaźmierczak2, Wojciech Zgliczyński1, Andrzej Kochański3, Jolanta Słowikowska-Hilczer4
Pubmed: 33378072
Endokrynol Pol 2020;71(6):561-572.


Male infertility is the cause of couples’ infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further genetic evaluation.

The extent of genetic testing itself depends on the semen analysis results, which allow the risk of inheritance of chromosomal aberrations to be determined and the root causes of habitual miscarriages to be explained.
In azoospermia, once the type of microdeletion has been identified, a decision can be made as to whether a testicular biopsy is required to obtain sperm for the artificial reproductive technology (ART) procedure.

The physical examination, genetic interview, and hormonal results are helpful in deciding which genetic tests to perform.
Our research facilitates genetic testing in the diagnosis of male infertility.

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  1. Jungwirth A, Diemer T, Dohle GR, Giwercman A, Kopa Z, Krausz C, Tournaye H. Guidelines on Male Infertility. European Association of Urology 2018.
  2. Brandt JS, Cruz Ithier MA, Rosen T, et al. Advanced paternal age, infertility, and reproductive risks: A review of the literature. Prenat Diagn. 2019; 39(2): 81–87.
  3. Jonge CDe. Paternal age and sperm methylation status. Fertil Steril. 2013; 100(4): 940–941.
  4. Goriely A, Wilkie AOM. Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet. 2012; 90(2): 175–200.
  5. Maher GJ, Ralph HK, Ding Z, et al. Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes. Genome Res. 2018; 28(12): 1779–1790.
  6. Frans EM, Sandin S, Reichenberg A, et al. Autism risk across generations: a population-based study of advancing grandpaternal and paternal age. JAMA Psychiatry. 2013; 70(5): 516–521.
  7. Breuss MW, Antaki D, George RD, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020; 26(1): 143–150.
  8. de Kluiver H, Buizer-Voskamp JE, Dolan CV, et al. Paternal age and psychiatric disorders: A review. Am J Med Genet B Neuropsychiatr Genet. 2017; 174(3): 202–213.
  9. Janecka M, Mill J, Basson MA, et al. Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms. Transl Psychiatry. 2017; 7(1): e1019.
  10. McGrath JJ, Petersen L, Agerbo E, et al. A comprehensive assessment of parental age and psychiatric disorders. JAMA Psychiatry. 2014; 71(3): 301–309.
  11. Gao Yu, Yu Y, Xiao J, et al. Association of Grandparental and Parental Age at Childbirth With Autism Spectrum Disorder in Children. JAMA Netw Open. 2020; 3(4): e202868.
  12. Ghieh F, Mitchell V, Mandon-Pepin B, et al. Genetic defects in human azoospermia. Basic Clin Androl. 2019; 29: 4.
  13. Pashaei M, Rahimi Bidgoli MM, Zare-Abdollahi D, et al. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. J Assist Reprod Genet. 2020; 37(2): 451–458.
  14. Wang Y, Tu C, Nie H, et al. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. J Assist Reprod Genet. 2020; 37(4): 811–820.
  15. Lu C, Zhang Y, Qin Y, et al. Human X chromosome exome sequencing identifies as contributor to spermatogenesis. J Med Genet. 2020 [Epub ahead of print].
  16. Shi X, Chan CP, Waters T, et al. Lifestyle and demographic factors associated with human semen quality and sperm function. Syst Biol Reprod Med. 2018; 64(5): 358–367.
  17. Bandel I, Bungum M, Richtoff J, et al. No association between body mass index and sperm DNA integrity. Hum Reprod. 2015; 30(7): 1704–1713.
  18. Greco E, Iacobelli M, Rienzi L, et al. Reduction of the incidence of sperm DNA fragmentation by oral antioxidant treatment. J Androl. 2005; 26(3): 349–353.
  19. Nowicka-Bauer K, Nixon B. Molecular Changes Induced by Oxidative Stress that Impair Human Sperm Motility. Antioxidants (Basel). 2020; 9(2).
  20. Schisterman EF, Sjaarda LA, Clemons T, et al. Effect of Folic Acid and Zinc Supplementation in Men on Semen Quality and Live Birth Among Couples Undergoing Infertility Treatment: A Randomized Clinical Trial. JAMA. 2020; 323(1): 35–48.