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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/15962
Title: Chromosomal abnormalities in men with azoospermia
Authors: Racovița, Stela
Mosin, Veaceslav
Capcelea, Svetlana
Mişina, Ana
Sprincean, Mariana
Keywords: infertility;azoospermia;chromosomal abnormalities
Issue Date: 2021
Publisher: The Scientific Medical Association of the Republic of Moldova
Citation: RACOVITA, Stela, MOSIN, Veaceslav, CAPCELEA, Svetlana, MISINA, Ana SPRINCEAN, Mariana. Chromosomal abnormalities in men with azoospermia. In: The Moldovan Medical Journal. 2021, vol. 64, no 1, pp. 50-55. ISSN 2537-6381. DOI: 10.5281/zenodo.4527139
Abstract: Abstract. Background: Infertility affects about 15 percent of all couples attempting pregnancy, with the man responsible in approximately half the cases. Azoospermia is detected in up to 8% of male infertility situations. The prevalence of chromosomal abnormalities is increased in azoospermic men. Material and methods: We performed a cytogenetic analysis in a group of 128 infertile men with azoospermia from the Republic of Moldova during 2013- 2018 period. Karyotyping was performed on peripheral blood lymphocytes according to standard methods of G-banding of metaphase chromosomes. For reporting the results, the 2016 International System of Cytogenetic Nomenclature was used. Results: 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 sex chromosomal abnormality was Klinefelter syndrome: in 21 (55.3%, 95CI 47.23-63.37) cases homogeneous form 47, XXY and in 4 (10.5%, 95CI 5.52-15.48) cases mosaic form. Y-chromosome aberrations were also identified: in 7 (18.4%, 95CI 12.11- 24.69) cases was noticed duplication of distal arm 46,XYqh+ and in 3 (7.9%, 95CI 3.53-12.27) cases deletion of the same arm 46,X,del(Y). Additionally, 45, X/46, XY, and 46, XX karyotypes were found. Conclusions: 38% of the studied group have chromosomal variations that may explain the origin of infertility. All men with azoospermia should be offered cytogenetic screening followed by appropriate genetic counseling before infertility treatment.
metadata.dc.relation.ispartof: The Moldovan Medical Journal
URI: http://moldmedjournal.md/wp-content/uploads/2021/02/64-1-Mold-Med-Journal-version-3.pdf
http://repository.usmf.md/handle/20.500.12710/15962
ISSN: 2537-6381
2537-6373
Appears in Collections:The Moldovan Medical Journal, Vol. 64, No 1, March 2021

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