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Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 11, pp 1939–1951 | Cite as

Genetic evaluation of patients with non-syndromic male infertility

  • Ozlem Okutman
  • Maroua Ben Rhouma
  • Moncef Benkhalifa
  • Jean Muller
  • Stéphane VivilleEmail author
Review
  • 492 Downloads

Abstract

Purpose

This review provides an update on the genetics of male infertility with emphasis on the current state of research, the genetic disorders that can lead to non-syndromic male infertility, and the genetic tests available for patients.

Methods

A comprehensive review of the scientific literature referenced in PubMed was conducted using keywords related to male infertility and genetics. The search included articles with English abstracts appearing online after 2000.

Results

Mutations in 31 distinct genes have been identified as a cause of non-syndromic human male infertility, and the number is increasing constantly. Screening gene panels by high-throughput sequencing can be offered to patients in order to identify genes involved in various forms of human non-syndromic infertility. We propose a workflow for genetic tests which takes into account semen alterations.

Conclusions

The identification and characterization of the genetic basis of male infertility have broad implications not only for understanding the cause of infertility but also in determining the prognosis, selection of treatment options, and management of couples. Genetic diagnosis is essential for the success of ART techniques and for preserving future fertility as well as the prognosis for testicular sperm extraction (TESE) and adopted therapeutics.

Keywords

Male infertility Non-syndromic Gene panel Whole exome sequencing Genetics 

Notes

Acknowledgements

We thank Robert Drillien for critical reading of the manuscript.

Funding information

The study was funded by Fondation Maladies Rares (“High-throughput sequencing and rare diseases”) and l’Agence de BioMédecine (“AMP, diagnostic prénatal et diagnostic génétique”).

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Authors and Affiliations

  1. 1.Institut de Parasitologie et Pathologie Tropicale, EA 7292, Fédération de Médecine Translationelle (IPPTS)Université de StrasbourgStrasbourgFrance
  2. 2.Laboratoire de Diagnostic Génétique, UF3472-génétique de l’infertilitéHôpitaux Universitaires de StrasbourgStrasbourgFrance
  3. 3.Médecine de la Reproduction et Cytogénétique Médicale CHU et Faculté de MédecineUniversité de Picardie Jules VerneAmiensFrance
  4. 4.Laboratoire de Diagnostic GénétiqueHôpitaux Universitaires de StrasbourgStrasbourgFrance
  5. 5.Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS)Université de StrasbourgStrasbourgFrance

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