Non-syndromic monogenic male infertility

Giulia Guerri; Tiziana Maniscalchi; Shila Barati; Gian Maria Busetto; Francesco Del Giudice; Ettore De Berardinis; Rossella Cannarella; Aldo Eugenio Calogero; Matteo Bertelli

doi:10.23750/abm.v90i10-S.8762

Non-syndromic monogenic male infertility

Authors

Giulia Guerri MAGI’s Lab, Rovereto (TN), Italy
Tiziana Maniscalchi MAGI Euregio, Bolzano, Italy
Shila Barati MAGI Euregio, Bolzano, Italy
Gian Maria Busetto Department of Urology, University of Rome La Sapienza, Policlinico Umberto I, Rome, Italy
Francesco Del Giudice Department of Urology, University of Rome La Sapienza, Policlinico Umberto I, Rome, Italy
Ettore De Berardinis Department of Urology, University of Rome La Sapienza, Policlinico Umberto I, Rome, Italy
Rossella Cannarella Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Aldo Eugenio Calogero Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Matteo Bertelli MAGI Euregio, Bolzano, Italy

DOI: https://doi.org/10.23750/abm.v90i10-S.8762

Keywords:

male infertility, oligozoospermia, azoospermia, asthenozoospermia, teratozoospermia, spermatogenic failure, androgen insensitivity syndrome

Abstract

Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in spermatogenic failure, leading to the following anomalies: insufficient (oligozoospermia) or no (azoospermia) sperm production, limited progressive and/or total sperm motility (asthenozoospermia), altered sperm morphology (teratozoospermia), or combinations thereof. Androgen insensitivity, causing hormonal and sexual impairment in males with normal karyotype, also affects male fertility. The genetic causes of non-syndromic monogenic of male infertility are summarized in this article and a gene panel is proposed.

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Published

30-09-2019

Issue

Vol. 90 No. 10-S (2019): Cardiovascular Diseases (Part A) | Infertility and Metabolic Syndromes (Part B) - Guest Editor: Matteo Bertelli, Stefano Paolacci

Section

REVIEWS

License

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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How to Cite

Guerri G, Maniscalchi T, Barati S, et al. Non-syndromic monogenic male infertility. Acta Biomed. 2019;90(10-S):62-67. doi:10.23750/abm.v90i10-S.8762

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