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Human Genetics

, Volume 138, Issue 2, pp 125–140 | Cite as

New insights into the genetics of spermatogenic failure: a review of the literature

  • Rossella CannarellaEmail author
  • Rosita A. Condorelli
  • Ylenia Duca
  • Sandro La Vignera
  • Aldo E. CalogeroEmail author
Review
  • 190 Downloads

Abstract

Genetic anomalies are known to affect about 15% of infertile patients with azoospermia or severe oligozoospermia. Despite a throughout diagnostic work-up, in up to the 72% of the male partners of infertile couples, no etiological factor can be found; hence, the cause of infertility remains unclear. Recently, several novel genetic causes of spermatogenic failure (SPGF) have been described. The aim of this review was to collect all the available evidence of SPGF genetics, matching data from in-vitro and animal models with those in human beings to provide a comprehensive and updated overview of the genes capable of affecting spermatogenesis. By reviewing the literature, we provided a list of 60 candidate genes for SPGF. Their investigation by Next Generation Sequencing in large cohorts of patients with apparently idiopathic infertility would provide new interesting data about their racial- and ethnic-related prevalence in infertile patients, likely raising the diagnostic yields. We propose a phenotype-based approach to identify the genes to look for.

Notes

Author contributions

RC: conception and design of the study, data acquisition, analysis and interpretation of data, drafting and writing of the article, and final approval of the manuscript. RAC: data acquisition, analysis and interpretation of data, and final approval of the manuscript. YD: data acquisition, analysis and interpretation of data, and final approval of the manuscript. SLV: data acquisition, analysis and interpretation of data, and final approval of the manuscript. AEC: conception and design of the study, analysis and interpretation of data, critical final revision of the manuscript, and final approval of the manuscript.

Funding

This research did not receive any specific Grant from funding agencies in the public, commercial, or not-for-profit sectors.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interests in this study.

Supplementary material

439_2019_1974_MOESM1_ESM.docx (21 kb)
Supplementary material 1 (DOCX 20 KB)

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© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Clinical and Experimental MedicineUniversity of CataniaCataniaItaly

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