Y chromosome microdeletions in infertile male candidates for microfertilization
Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility,...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2008-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790804126R.pdf |
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| author | Ristanović Momčilo Bunjevački Vera Tulić Cane Novaković Ivana Ille Tatjana Radojković Dragica Nikolić Aleksandra |
| author_facet | Ristanović Momčilo Bunjevački Vera Tulić Cane Novaković Ivana Ille Tatjana Radojković Dragica Nikolić Aleksandra |
| author_sort | Ristanović Momčilo |
| collection | DOAJ |
| description | Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. METHOD One hundred and sixty patients with low sperm count (less than 5x106 spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Results Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%). Conclusion Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations. . |
| first_indexed | 2024-12-24T00:46:41Z |
| format | Article |
| id | doaj.art-97b10bef63734130a60d66e765abd1ad |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-24T00:46:41Z |
| publishDate | 2008-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-97b10bef63734130a60d66e765abd1ad2022-12-21T17:23:47ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792008-01-011363-412613010.2298/SARH0804126RY chromosome microdeletions in infertile male candidates for microfertilizationRistanović MomčiloBunjevački VeraTulić CaneNovaković IvanaIlle TatjanaRadojković DragicaNikolić AleksandraIntroduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. METHOD One hundred and sixty patients with low sperm count (less than 5x106 spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Results Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%). Conclusion Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations. .http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790804126R.pdfinfertilityazoospermiaoligospermiaPCRY chromosomemicrofertilization |
| spellingShingle | Ristanović Momčilo Bunjevački Vera Tulić Cane Novaković Ivana Ille Tatjana Radojković Dragica Nikolić Aleksandra Y chromosome microdeletions in infertile male candidates for microfertilization Srpski Arhiv za Celokupno Lekarstvo infertility azoospermia oligospermia PCR Y chromosome microfertilization |
| title | Y chromosome microdeletions in infertile male candidates for microfertilization |
| title_full | Y chromosome microdeletions in infertile male candidates for microfertilization |
| title_fullStr | Y chromosome microdeletions in infertile male candidates for microfertilization |
| title_full_unstemmed | Y chromosome microdeletions in infertile male candidates for microfertilization |
| title_short | Y chromosome microdeletions in infertile male candidates for microfertilization |
| title_sort | y chromosome microdeletions in infertile male candidates for microfertilization |
| topic | infertility azoospermia oligospermia PCR Y chromosome microfertilization |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790804126R.pdf |
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