Recently, several studies focused on novel genetic causes of spermatogenetic failure (SPGF) and an increasing number of gene variants has been reported in patients with oligo-astheno- and/or teratozoospermia (OAT). We gathered together the knowledge of both animals and humans in the attempt to suggest the specific role of each candidate gene in the spermatogenetic steps (Figure 1 of our article). In greater detail, by reviewing the literature, we provided a list of 60 genes encoding for proteins which are involved in differentiation of spermatogonial stem cells (e.g. PAX7, POU5F1, c-Kit, NANOS 1-3), type A and B spermatogonia (e.g. SOHLH1, SOHLH2, DMRT1), spermatocyte meiotic divisions (e.g. MEIOB, SPATA 22, RAD51, DMC1, etc.) and spermiogenesis (e.g. CCDC39, DNAAF1, DNAAF2, DNAH5, DNAH6, SEPT12, DNAI1, etc.). This list is shown in Table 1 of our article. In this light, patients with apparently idiopathic OAT might undergo to the analysis of specific genetic panels (on the basis of sperm parameter abnormality) (Figure 2 of our article) by next-generation sequencing (NGS), after a throughout diagnostic workup and the exclusion of all the known acquired congenital forms of male infertility.
Written by: Rossella Cannarella, Rosita A. Condorelli, Ylenia Duca, Sandro La Vignera, and Aldo E. Calogero of the Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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