New Insights into the Genetics of Spermatogenic Failure: A Review of the Literature - Beyond the Abstract

The investigation of the etiology of male infertility is becoming more and more needed since, according to recent reports, the percentage of idiopathic forms has been esteemed as high as 72%. Furthermore, meta-regression studies suggest an alarming decrease of up to 50% in sperm count and concentration among unselected men of North America, Europe, Australia, New Zealand, and Africa.

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

Full Text Article and Supplemental Tables and Figures Available at: https://link.springer.com/article/10.1007%2Fs00439-019-01974-1

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