Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Nov 10;13(11):2086.
doi: 10.3390/genes13112086.

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Szilvia Andó  1 , Katalin Koczok  1 , Beáta Bessenyei  1 , István Balogh  1   2 , Anikó Ujfalusi  1
Affiliations

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Szilvia Andó et al. Genes (Basel). .

Abstract

Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in infertile patients and to compare the frequency of structural aberrations to a control group. Karyotyping was performed in 1489 men and 780 women diagnosed with reproductive failure between 2010 and 2020. The control group included 869 male and 1160 female patients having cytogenetic evaluations for reasons other than infertility. Sex chromosomal aberrations were detected in 33/1489 (2.22%) infertile men and 3/780 (0.38%) infertile women. Structural abnormalities (e.g., translocation, inversion) were observed in 89/1489 (5.98%) infertile men and 58/780 (7.44%) infertile women. The control population showed structural chromosomal abnormalities in 27/869 (3.11%) men and 39/1160 (3.36%) women. There were significant differences in the prevalence of single-cell translocations between infertile individuals (males: 3.5%; females: 3.46%) and control patients (males: 0.46%; females: 0.7%). In summary, this is the first report of cytogenetic alterations in infertile patients in Hungary. The types of chromosomal abnormalities were comparable to previously published data. The prevalence of less-studied single-cell translocations was significantly higher in infertile patients than in the control population, supporting an earlier suggestion that these aberrations may be causally related to infertility.

Keywords: chromosomal aberrations; cytogenetics; infertility; single-cell translocations.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(a) The frequency of chromosomal abnormalities in infertile men; (b) the frequency of chromosomal abnormalities in infertile women.
Figure 2
Figure 2
(a) Type of the chromosomal abnormalities in infertile men; (b) type of chromosomal abnormalities in infertile women.
Figure 3
Figure 3
Karyogram of a male patient with the most frequent SCT, t(7;14).
Figure 4
Figure 4
The number of infertile patients and control individuals with inv(9).
Figure 5
Figure 5
The number of SCTs in infertile patients and control individuals.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Kamel R.M. Management of the infertile couple: An evidence-based protocol. Reprod. Biol. Endocrinol. 2010;8:21. doi: 10.1186/1477-7827-8-21. - DOI - PMC - PubMed
    1. Dohle G.R., Colpi G.M., Hargreave T.B., Papp G.K., Jungwirth A., Weidner W. EAU guidelines on male infertility. Eur. Urol. 2005;48:703–711. doi: 10.1016/j.eururo.2005.06.002. - DOI - PubMed
    1. Shah K., Sivapalan G., Gibbons N., Tempest H., Griffin D.K. The genetic basis of infertility. Reproduction. 2003;126:13–25. doi: 10.1530/rep.0.1260013. - DOI - PubMed
    1. Carson S.A., Kallen A.N. Diagnosis and Management of Infertility. JAMA. 2021;326:65–76. doi: 10.1001/jama.2021.4788. - DOI - PMC - PubMed
    1. Serapinas D., Valantinavičienė E., Machtejevienė E., Bartkevičiūtė A., Bartkevičienė D. Evaluation of Chromosomal Structural Anomalies in Fertility Disorders. Medicina. 2021;57:37. doi: 10.3390/medicina57010037. - DOI - PMC - PubMed