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

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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.

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  1. Department of Clinical and Experimental Medicine, University of Catania, Policlinico “G. Rodolico”, via S. Sofia 78, 95123, Catania, Italy

    Rossella Cannarella, Rosita A. Condorelli, Ylenia Duca, Sandro La Vignera & Aldo E. Calogero

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  1. Rossella Cannarella
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  2. Rosita A. Condorelli
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  3. Ylenia Duca
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  4. Sandro La Vignera
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  5. Aldo E. Calogero
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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.

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Correspondence to Rossella Cannarella or Aldo E. Calogero.

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Cannarella, R., Condorelli, R.A., Duca, Y. et al. New insights into the genetics of spermatogenic failure: a review of the literature. Hum Genet 138, 125–140 (2019). https://doi.org/10.1007/s00439-019-01974-1

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