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SM ISO690:2012 RACOVIȚĂ, Stela, MOŞIN, Veaceslav, CAPCELEA, Svetlana, MIŞINA, Ana, CEMORTAN, Igor, SPRINCEAN, Mariana. Investigații citogenetice la bărbații cu azoospermie. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 56. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Pag. 56-56 | ||||||
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Background. It is estimated that one in six couples are infertile for different reasons, and the male factor is involved in half of the cases. Azoospermia is detected in up to 8% of male infertility situations. The prevalence of chromosomal abnormalities is increased in azoospermic men. Objective of the study. To assess chromosomal variations in males with azoospermia, in order to confirm the importance of the cytogenetic testing for diagnosis and reproductive treatment assessment. Material and Methods. We performed cytogenetic analysis in a group of 128 infertile men with azoospermia from the Republic of Moldova during 2013-2019 period. Karyotyping was performed on peripheral blood lymphocytes according to standard methods G-banding of metaphase chromosomes. For reporting the results, the 2016 International System of Cytogenetic Nomenclature was used. Results. The mean age of men was 32,5 years. Chromosomal variations were identified in 48 infertile men with azoospermia. In 38 cases were found abnormalities of gonosomes and in 10 cases abnormalities of autosomes. The most common chromosomal abnormality was Klinefelter syndrome: in 23 cases (47,9%, 95CI 40,69-55,11) homogeneous form 47,XXY and in 2 cases (4,2%, 95CI 1,32-7,08) mosaic form 47,XXY/46,XY and 47,XXY/46,XX. Y-chromosome aberrations were also identified: in 8 cases (16,7%, 95CI 11,32-22,08) was noticed duplication of distal arm 46,XYqh+ and in 3 cases (6,3%, 95CI 2,81-9,79)- deletion of the same arm 46,X,del(Y). Additionally, 45,X/46,XY and 46,XX karyotypes were found. Conclusion. Men with azoospermia should undergo cytogenetic analysis followed by genetic counseling, because determining the genetic factors causing infertility would be a key for diagnosis and reproductive treatment assessment. |
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Cuvinte-cheie male infertility, azoospermia, karyotype, infertilitate masculină, azoospermie, cariotip |
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