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Microdeletion of Y chromosome as a cause of recurrent pregnancy loss

CONTEXT: In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In ma...

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Autores principales: Agarwal, Shubhra, Agarwal, Arjit, Khanna, Anuradha, Singh, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601175/
https://www.ncbi.nlm.nih.gov/pubmed/26538859
http://dx.doi.org/10.4103/0974-1208.165145
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author Agarwal, Shubhra
Agarwal, Arjit
Khanna, Anuradha
Singh, Kiran
author_facet Agarwal, Shubhra
Agarwal, Arjit
Khanna, Anuradha
Singh, Kiran
author_sort Agarwal, Shubhra
collection PubMed
description CONTEXT: In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In males, microdeletions of the Y chromosome are known to cause spermatogenetic failure and male infertility. AIMS: The aim of the study was to find out the role of Y chromosome microdeletion in male partners of couples experiencing RPL. SETTINGS AND DESIGN: University hospital and genetic laboratory. Prospective case–control study. SUBJECTS AND METHODS: 59 couples with a history of RPL and 20 fertile controls (FC) with no miscarriage were included in the study. The study subjects were divided into male partners of RPL couples with abnormal semen parameters (AS) (n = 8), and couples with normal semen parameters (NS) (n = 51). Fertile controls with normal semen parameters were (FC) (n = 20). Y chromosome microdeletion was performed on 40 male partners of RPL and 20 FC. STATISTICAL ANALYSIS USED: Chi-square test. P <0.05 were considered statistically significant. RESULTS: 13 of the 40 RPL cases showed deletion in three azoospermia factor loci on the long arm of Y chromosome. The P value was significant with Y chromosome microdeletion in RPL cases as compared to 20 FC where no Y chromosome microdeletion was present. CONCLUSIONS: Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage and can be offered to couples with the undiagnosed cause of miscarriage.
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spelling pubmed-46011752015-11-04 Microdeletion of Y chromosome as a cause of recurrent pregnancy loss Agarwal, Shubhra Agarwal, Arjit Khanna, Anuradha Singh, Kiran J Hum Reprod Sci Original Article CONTEXT: In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In males, microdeletions of the Y chromosome are known to cause spermatogenetic failure and male infertility. AIMS: The aim of the study was to find out the role of Y chromosome microdeletion in male partners of couples experiencing RPL. SETTINGS AND DESIGN: University hospital and genetic laboratory. Prospective case–control study. SUBJECTS AND METHODS: 59 couples with a history of RPL and 20 fertile controls (FC) with no miscarriage were included in the study. The study subjects were divided into male partners of RPL couples with abnormal semen parameters (AS) (n = 8), and couples with normal semen parameters (NS) (n = 51). Fertile controls with normal semen parameters were (FC) (n = 20). Y chromosome microdeletion was performed on 40 male partners of RPL and 20 FC. STATISTICAL ANALYSIS USED: Chi-square test. P <0.05 were considered statistically significant. RESULTS: 13 of the 40 RPL cases showed deletion in three azoospermia factor loci on the long arm of Y chromosome. The P value was significant with Y chromosome microdeletion in RPL cases as compared to 20 FC where no Y chromosome microdeletion was present. CONCLUSIONS: Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage and can be offered to couples with the undiagnosed cause of miscarriage. Medknow Publications & Pvt Ltd 2015 /pmc/articles/PMC4601175/ /pubmed/26538859 http://dx.doi.org/10.4103/0974-1208.165145 Text en Copyright: © Journal of Human Reproductive Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms
spellingShingle Original Article
Agarwal, Shubhra
Agarwal, Arjit
Khanna, Anuradha
Singh, Kiran
Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title_full Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title_fullStr Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title_full_unstemmed Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title_short Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
title_sort microdeletion of y chromosome as a cause of recurrent pregnancy loss
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601175/
https://www.ncbi.nlm.nih.gov/pubmed/26538859
http://dx.doi.org/10.4103/0974-1208.165145
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