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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-01-01
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| Series: | Journal of Human Reproductive Sciences |
| Subjects: | |
| Online Access: | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2015;volume=8;issue=3;spage=159;epage=164;aulast=Agarwal |
| _version_ | 1818320731484717056 |
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| author | Shubhra Agarwal Arjit Agarwal Anuradha Khanna Kiran Singh |
| author_facet | Shubhra Agarwal Arjit Agarwal Anuradha Khanna Kiran Singh |
| author_sort | Shubhra Agarwal |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T10:29:40Z |
| format | Article |
| id | doaj.art-dcfefd881f7748e3935952d3a834dad8 |
| institution | Directory Open Access Journal |
| issn | 0974-1208 1998-4766 |
| language | English |
| last_indexed | 2024-12-13T10:29:40Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj.art-dcfefd881f7748e3935952d3a834dad82022-12-21T23:50:55ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662015-01-018315916410.4103/0974-1208.165145Microdeletion of Y chromosome as a cause of recurrent pregnancy lossShubhra AgarwalArjit AgarwalAnuradha KhannaKiran SinghCONTEXT: 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.http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2015;volume=8;issue=3;spage=159;epage=164;aulast=AgarwalRecurrent pregnancy miscarriagesemen analysisY chromosome microdeletion |
| spellingShingle | Shubhra Agarwal Arjit Agarwal Anuradha Khanna Kiran Singh Microdeletion of Y chromosome as a cause of recurrent pregnancy loss Journal of Human Reproductive Sciences Recurrent pregnancy miscarriage semen analysis Y chromosome microdeletion |
| 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 | Recurrent pregnancy miscarriage semen analysis Y chromosome microdeletion |
| url | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2015;volume=8;issue=3;spage=159;epage=164;aulast=Agarwal |
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