Chromosomal abnormalities in men with azoospermia
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...
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doaj-e8d2507fdf8b40c18a2a7bb5a2c1d0832021-03-10T19:44:47ZengScientific Medical Association of MoldovaThe Moldovan Medical Journal2537-63732537-63812021-03-01641505510.5281/zenodo.4527139Chromosomal abnormalities in men with azoospermiaStela Racovita0https://orcid.org/0000-0002-0900-0096Veaceslav Mosin1https://orcid.org/0000-0002-1209-525XSvetlana Capcelea2https://orcid.org/0000-0003-2656-8254Ana Misina3https://orcid.org/0000-0001-6248-0319Mariana Sprincean4https://orcid.org/0000-0002-3619-1924Department of Molecular Biology and Human Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of MoldovaDepartment of Obstetrics and Gynecology, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of MoldovaDepartment of Molecular Biology and Human Genetics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of MoldovaInstitute of Mother and Child, Chisinau, the Republic of MoldovaInstitute of Mother and Child, Chisinau, the Republic of MoldovaBackground: 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 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.http://moldmedjournal.md/wp-content/uploads/2021/03/moldovan-med-j-2021-64-1-racovita-et-al-full-text.pdfinfertilityazoospermiachromosomal abnormalities |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Stela Racovita Veaceslav Mosin Svetlana Capcelea Ana Misina Mariana Sprincean |
spellingShingle |
Stela Racovita Veaceslav Mosin Svetlana Capcelea Ana Misina Mariana Sprincean Chromosomal abnormalities in men with azoospermia The Moldovan Medical Journal infertility azoospermia chromosomal abnormalities |
author_facet |
Stela Racovita Veaceslav Mosin Svetlana Capcelea Ana Misina Mariana Sprincean |
author_sort |
Stela Racovita |
title |
Chromosomal abnormalities in men with azoospermia |
title_short |
Chromosomal abnormalities in men with azoospermia |
title_full |
Chromosomal abnormalities in men with azoospermia |
title_fullStr |
Chromosomal abnormalities in men with azoospermia |
title_full_unstemmed |
Chromosomal abnormalities in men with azoospermia |
title_sort |
chromosomal abnormalities in men with azoospermia |
publisher |
Scientific Medical Association of Moldova |
series |
The Moldovan Medical Journal |
issn |
2537-6373 2537-6381 |
publishDate |
2021-03-01 |
description |
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 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. |
topic |
infertility azoospermia chromosomal abnormalities |
url |
http://moldmedjournal.md/wp-content/uploads/2021/03/moldovan-med-j-2021-64-1-racovita-et-al-full-text.pdf |
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