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.
Human genetics. 2019 Jan 17 [Epub ahead of print]
Rossella Cannarella, Rosita A Condorelli, Ylenia Duca, Sandro La Vignera, Aldo E Calogero
Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy. ., Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy., Department of Clinical and Experimental Medicine, University of Catania, Policlinico "G. Rodolico", via S. Sofia 78, 95123, Catania, Italy. .
PubMed http://www.ncbi.nlm.nih.gov/pubmed/30656449
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