THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE
Objective: Genetic factors, including Y chromosome microdeletions, are responsible for about 10% of male infertility cases and are particularly associated with azoospermia or severe oligozoospermia. In our study, it was aimed to determine the frequency of Y chromosome microdeletions in the Thrace re...
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Istanbul University Press
2021-01-01
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| Series: | İstanbul Tıp Fakültesi Dergisi |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6493B8B6B8D74B83AF07CE391D132437 |
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| author | Sinem Yalçıntepe Damla Eker Hakan Gürkan |
| author_facet | Sinem Yalçıntepe Damla Eker Hakan Gürkan |
| author_sort | Sinem Yalçıntepe |
| collection | DOAJ |
| description | Objective: Genetic factors, including Y chromosome microdeletions, are responsible for about 10% of male infertility cases and are particularly associated with azoospermia or severe oligozoospermia. In our study, it was aimed to determine the frequency of Y chromosome microdeletions in the Thrace region and to provide information about the heterogeneous phenotype in infertile male patients with AZF microdeletion. Material and Method: Chromosome analysis and Y chromosome microdeletion analysis were performed on 446 male patients with non-obstructive azoospermia or oligozoospermia, who applied to the Trakya University Hospital Medical Genetics Department Genetic Diseases Diagnosis Center clinic between the years 2011-2019. Results: Y chromosome microdeletion was detected in 19 (4.26%) of 446 cases. Structural chromosomal anomalies were accompanied in 5 of 19 cases with Y chromosome microdeletions. Three hundred fifty-two cases had no Y chromosome microdeletion, 35 (9.94%) of these cases had Klinefelter syndrome, 1 (0.28%) case had Klinefelter syndrome low grade mosaicism, 3 (0.85%) cases had Robertsonian translocation carriage, and 1 (0.28%) had Reciprocal translocation carriage. Conclusion: Y chromosome microdeletion screening in non-obstructive azoospermic or oligosoospermic infertile male patients has prognostic value and affects clinical prognosis. The results of our study support the proposal to perform Y chromosome microdeletion analysis before microTESE in azoospermic or oligosoospermic infertile male patients as reported in the literature. |
| format | Article |
| id | doaj-art-89b38104830549168c07c2ad67e26ffa |
| institution | OA Journals |
| issn | 1305-6441 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | İstanbul Tıp Fakültesi Dergisi |
| spelling | doaj-art-89b38104830549168c07c2ad67e26ffa2025-08-20T02:15:33ZengIstanbul University Pressİstanbul Tıp Fakültesi Dergisi1305-64412021-01-01841273310.26650/IUITFD.2020.0017123456THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCESinem Yalçıntepe0https://orcid.org/0000-0002-8557-8885Damla Eker1https://orcid.org/0000-0001-7563-118XHakan Gürkan2https://orcid.org/0000-0002-8967-6124Trakya Üniversitesi, Edirne, TurkiyeTrakya Üniversitesi, Edirne, TurkiyeTrakya Üniversitesi, Edirne, TurkiyeObjective: Genetic factors, including Y chromosome microdeletions, are responsible for about 10% of male infertility cases and are particularly associated with azoospermia or severe oligozoospermia. In our study, it was aimed to determine the frequency of Y chromosome microdeletions in the Thrace region and to provide information about the heterogeneous phenotype in infertile male patients with AZF microdeletion. Material and Method: Chromosome analysis and Y chromosome microdeletion analysis were performed on 446 male patients with non-obstructive azoospermia or oligozoospermia, who applied to the Trakya University Hospital Medical Genetics Department Genetic Diseases Diagnosis Center clinic between the years 2011-2019. Results: Y chromosome microdeletion was detected in 19 (4.26%) of 446 cases. Structural chromosomal anomalies were accompanied in 5 of 19 cases with Y chromosome microdeletions. Three hundred fifty-two cases had no Y chromosome microdeletion, 35 (9.94%) of these cases had Klinefelter syndrome, 1 (0.28%) case had Klinefelter syndrome low grade mosaicism, 3 (0.85%) cases had Robertsonian translocation carriage, and 1 (0.28%) had Reciprocal translocation carriage. Conclusion: Y chromosome microdeletion screening in non-obstructive azoospermic or oligosoospermic infertile male patients has prognostic value and affects clinical prognosis. The results of our study support the proposal to perform Y chromosome microdeletion analysis before microTESE in azoospermic or oligosoospermic infertile male patients as reported in the literature.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6493B8B6B8D74B83AF07CE391D132437y microdeletionmale infertilitychromosome anomalyazoospermiaoligospermia |
| spellingShingle | Sinem Yalçıntepe Damla Eker Hakan Gürkan THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE İstanbul Tıp Fakültesi Dergisi y microdeletion male infertility chromosome anomaly azoospermia oligospermia |
| title | THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE |
| title_full | THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE |
| title_fullStr | THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE |
| title_full_unstemmed | THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE |
| title_short | THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE |
| title_sort | frequency of y chromosome microdeletions and cytogenetic abnormalities in cases with male infertility from thrace region single center experience |
| topic | y microdeletion male infertility chromosome anomaly azoospermia oligospermia |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6493B8B6B8D74B83AF07CE391D132437 |
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