Chromosomal Abnormality in Men with Impaired Spermatogenesis
Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population wi...
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Royan Institute (ACECR), Tehran
2014-04-01
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doaj-cc28316e9eb94d7786336b7b4caa94c62020-11-25T03:58:14ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782014-04-0181354245219Chromosomal Abnormality in Men with Impaired SpermatogenesisDana Mierla0Dumitru Jardan1Veronica Stoian2Life Memorial Hospital, Bucharest, Romania;Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, RomaniaLife Memorial Hospital, Bucharest, RomaniaDepartment of Genetics, Faculty of Biology, University of Bucharest, Bucharest, RomaniaBackground: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment.http://www.ijfs.ir/article_45219_8c00af110eda6ef51c0a28ac2019bdeb.pdfchromosomal abnormalitychromosome microdeletionmale infertilityazoospermiaoligozoospermia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dana Mierla Dumitru Jardan Veronica Stoian |
spellingShingle |
Dana Mierla Dumitru Jardan Veronica Stoian Chromosomal Abnormality in Men with Impaired Spermatogenesis International Journal of Fertility and Sterility chromosomal abnormality chromosome microdeletion male infertility azoospermia oligozoospermia |
author_facet |
Dana Mierla Dumitru Jardan Veronica Stoian |
author_sort |
Dana Mierla |
title |
Chromosomal Abnormality in Men with Impaired Spermatogenesis |
title_short |
Chromosomal Abnormality in Men with Impaired Spermatogenesis |
title_full |
Chromosomal Abnormality in Men with Impaired Spermatogenesis |
title_fullStr |
Chromosomal Abnormality in Men with Impaired Spermatogenesis |
title_full_unstemmed |
Chromosomal Abnormality in Men with Impaired Spermatogenesis |
title_sort |
chromosomal abnormality in men with impaired spermatogenesis |
publisher |
Royan Institute (ACECR), Tehran |
series |
International Journal of Fertility and Sterility |
issn |
2008-076X 2008-0778 |
publishDate |
2014-04-01 |
description |
Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment. |
topic |
chromosomal abnormality chromosome microdeletion male infertility azoospermia oligozoospermia |
url |
http://www.ijfs.ir/article_45219_8c00af110eda6ef51c0a28ac2019bdeb.pdf |
work_keys_str_mv |
AT danamierla chromosomalabnormalityinmenwithimpairedspermatogenesis AT dumitrujardan chromosomalabnormalityinmenwithimpairedspermatogenesis AT veronicastoian chromosomalabnormalityinmenwithimpairedspermatogenesis |
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1724458398808801280 |