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Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phenotype. However, the available evidence suggests that few clinical features are shared by t...

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Autores principales: Jedraszak, Guillaume, Copin, Henri, Demailly, Manuel, Quibel, Catherine, Leclerc, Thierry, Gallet, Marlène, Benkhalifa, Moncef, Receveur, Aline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453045/
https://www.ncbi.nlm.nih.gov/pubmed/26042156
http://dx.doi.org/10.1186/s13039-015-0141-8
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author Jedraszak, Guillaume
Copin, Henri
Demailly, Manuel
Quibel, Catherine
Leclerc, Thierry
Gallet, Marlène
Benkhalifa, Moncef
Receveur, Aline
author_facet Jedraszak, Guillaume
Copin, Henri
Demailly, Manuel
Quibel, Catherine
Leclerc, Thierry
Gallet, Marlène
Benkhalifa, Moncef
Receveur, Aline
author_sort Jedraszak, Guillaume
collection PubMed
description Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phenotype. However, the available evidence suggests that few clinical features are shared by these patients: only variable intellectual disability, variable facial dysmorphism and epilepsy are reported in a few patients. Although three inherited cases of trisomy 18p have already been reported, all were of maternal origin. We report on a patient carrying an isolated complete trisomy 18p translocated to the short arm of chromosome 14 and presenting with facial dysmorphism, mild intellectual disability and non-obstructive azoospermia. Chromosomal abnormalities are more frequent in infertile men with poor sperm quality than the general population. Both numerical and structural chromosomal aberrations have been already reported within the context of azoospermia. To our knowledge, this is the first patient with trisomy 18p to present a fertility impairment due to totally altered spermatogenesis and azoospermia. Although fertility disorders were not mentioned in the four previous reports of men with trisomy 18p, none of the latter had children. We suggest that azoospermia is a previously uncharacterized feature of trisomy 18p syndrome. We further hypothesize that two mechanisms could be responsible of the fertility impairment: a meiotic synapsis defect due to the additional 18p arm that blocks meiosis, and/or overexpression of a gene located on the 18p chromosome involved in the normal testicular development.
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spelling pubmed-44530452015-06-04 Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature Jedraszak, Guillaume Copin, Henri Demailly, Manuel Quibel, Catherine Leclerc, Thierry Gallet, Marlène Benkhalifa, Moncef Receveur, Aline Mol Cytogenet Case Report Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been reported in the literature, making it difficult to define a potentially associated phenotype. However, the available evidence suggests that few clinical features are shared by these patients: only variable intellectual disability, variable facial dysmorphism and epilepsy are reported in a few patients. Although three inherited cases of trisomy 18p have already been reported, all were of maternal origin. We report on a patient carrying an isolated complete trisomy 18p translocated to the short arm of chromosome 14 and presenting with facial dysmorphism, mild intellectual disability and non-obstructive azoospermia. Chromosomal abnormalities are more frequent in infertile men with poor sperm quality than the general population. Both numerical and structural chromosomal aberrations have been already reported within the context of azoospermia. To our knowledge, this is the first patient with trisomy 18p to present a fertility impairment due to totally altered spermatogenesis and azoospermia. Although fertility disorders were not mentioned in the four previous reports of men with trisomy 18p, none of the latter had children. We suggest that azoospermia is a previously uncharacterized feature of trisomy 18p syndrome. We further hypothesize that two mechanisms could be responsible of the fertility impairment: a meiotic synapsis defect due to the additional 18p arm that blocks meiosis, and/or overexpression of a gene located on the 18p chromosome involved in the normal testicular development. BioMed Central 2015-06-04 /pmc/articles/PMC4453045/ /pubmed/26042156 http://dx.doi.org/10.1186/s13039-015-0141-8 Text en © Jedraszak et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Jedraszak, Guillaume
Copin, Henri
Demailly, Manuel
Quibel, Catherine
Leclerc, Thierry
Gallet, Marlène
Benkhalifa, Moncef
Receveur, Aline
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title_full Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title_fullStr Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title_full_unstemmed Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title_short Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
title_sort azoospermia and trisomy 18p syndrome: a fortuitous association? a patient report and a review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453045/
https://www.ncbi.nlm.nih.gov/pubmed/26042156
http://dx.doi.org/10.1186/s13039-015-0141-8
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