Balanced X-autosome translocations and male infertility
https://doi.org/10.25557/2073-7998.2024.03.3-11
Abstract
In men with reproductive disorders, the frequency of balanced chromosomal rearrangements is higher than in the general population. Sex chromosomes (gonosomes) translocations often have a negative impact on spermatogenesis and male fertility. Regardless of the position of the breakpoint in the X chromosome, in male carriers of X-autosome (X;A) translocations severe disorders of spermatogenesis leading to non-obstructive azoospermia or severe oligozoospermia are detected. Impaired fertility in men with X;A translocations is caused by a meiotic arrest of spermatogenesis. In patients with partially preserved spermatogenesis, an increased rate of aneuploidy in gametes was found. Infertility treatment in such patients is possible with the assisted reproductive techniques (IVF/ICSI) with preimplantation genetic testing of embryos.
Keywords
Supporting agencies: The work was carried out under the state assignment for the Research Centre for Medical Genetics.
About the Authors
M. V. Andreeva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow 115522
L. F. Kurilo
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow 115522
V. B. Chernykh
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow 115522
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For citations:
Andreeva M.V., Kurilo L.F., Chernykh V.B. Balanced X-autosome translocations and male infertility. Medical Genetics. 2024;23(3):3-11. (In Russ.) https://doi.org/10.25557/2073-7998.2024.03.3-11
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