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Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic

Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic co...

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Autores principales: Cerván-Martín, Miriam, Castilla, José A., Palomino-Morales, Rogelio J., Carmona, F. David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074441/
https://www.ncbi.nlm.nih.gov/pubmed/31973052
http://dx.doi.org/10.3390/jcm9020300
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author Cerván-Martín, Miriam
Castilla, José A.
Palomino-Morales, Rogelio J.
Carmona, F. David
author_facet Cerván-Martín, Miriam
Castilla, José A.
Palomino-Morales, Rogelio J.
Carmona, F. David
author_sort Cerván-Martín, Miriam
collection PubMed
description Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, different genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. However, these alterations only explain around 25% of azoospermic cases, with the remaining patients showing an idiopathic origin. Recent studies clearly suggest that the so-called idiopathic NOA has a complex aetiology with a polygenic inheritance, which may alter the spermatogenic process. Although we are far from a complete understanding of the molecular mechanisms underlying NOA, the use of the new technologies for genetic analysis has enabled a considerable increase in knowledge during the last years. In this review, we will provide a comprehensive and updated overview of the genetic basis of NOA, with a special focus on the possible application of the recent insights in clinical practice.
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spelling pubmed-70744412020-03-20 Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic Cerván-Martín, Miriam Castilla, José A. Palomino-Morales, Rogelio J. Carmona, F. David J Clin Med Review Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, different genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. However, these alterations only explain around 25% of azoospermic cases, with the remaining patients showing an idiopathic origin. Recent studies clearly suggest that the so-called idiopathic NOA has a complex aetiology with a polygenic inheritance, which may alter the spermatogenic process. Although we are far from a complete understanding of the molecular mechanisms underlying NOA, the use of the new technologies for genetic analysis has enabled a considerable increase in knowledge during the last years. In this review, we will provide a comprehensive and updated overview of the genetic basis of NOA, with a special focus on the possible application of the recent insights in clinical practice. MDPI 2020-01-21 /pmc/articles/PMC7074441/ /pubmed/31973052 http://dx.doi.org/10.3390/jcm9020300 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Cerván-Martín, Miriam
Castilla, José A.
Palomino-Morales, Rogelio J.
Carmona, F. David
Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title_full Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title_fullStr Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title_full_unstemmed Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title_short Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
title_sort genetic landscape of nonobstructive azoospermia and new perspectives for the clinic
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074441/
https://www.ncbi.nlm.nih.gov/pubmed/31973052
http://dx.doi.org/10.3390/jcm9020300
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