Chromosomal abnormalities in men with azoospermia
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2022-10-20 17:20
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616.69-008.6:575.224.23 (2)
Patologia sistemului urogenital. Boli urinare şi sexuale (genitale) (368)
Genetică generală. Citogenetică generală (426)
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RACOVIȚĂ, Stela, MOSHIN, Veaceslav, CAPCELEA, Svetlana, MISHINA, Anna, SPRINCEAN, Mariana. Chromosomal abnormalities in men with azoospermia. In: Moldovan Medical Journal, 2021, nr. 1(64), pp. 50-55. ISSN 2537-6373. DOI: https://doi.org/10.5281/zenodo.4527139
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Moldovan Medical Journal
Numărul 1(64) / 2021 / ISSN 2537-6373 /ISSNe 2537-6381

Chromosomal abnormalities in men with azoospermia

DOI: https://doi.org/10.5281/zenodo.4527139
CZU: 616.69-008.6:575.224.23

Pag. 50-55

Racoviță Stela1, Moshin Veaceslav1, Capcelea Svetlana1, Mishina Anna2, Sprincean Mariana12
 
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child
 
Disponibil în IBN: 13 martie 2021


Rezumat

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 cytogenetic analysis in a group of 128 infertile men with azoospermia from the Republic of Moldova during 20132018 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 12.1124.69) 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.

Cuvinte-cheie
infertility, azoospermia, chromosomal abnormalities