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

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.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

“…In the literature, 5.1% 39 and 5.5% 40 rates align with this result. Infertile males in our cohort had an autosomal translocation rate of 1.06%, which was consistent with one study's finding (1.07%), while infertile females had a rate of 0.3%, which was lower than this same study (1.28%) 41 . The most common anomaly in female patients with chromosomal anomalies was 45,X/46,XX.…”

“…In our study, male patients (6.7%) had statistically significantly higher rates of chromosomal abnormalities than female patients (1.5%). A recent study reported that chromosomal abnormalities in infertile patients were 8.19% in males and 7.82% in females 41 . Our study showed that females (1.9%) have chromosomal abnormalities more often than males (1.3%) in patients with recurrent pregnancy loss.…”

“…While the numerical X mosaism rate was 0.9% in our study, the literature reported the prevalence of numerical X mosaicism in infertile females as 0.3% 41 and 2.8% 42 . This difference is may due to the cut‐off value used to determine the real mosaicism 41 . In our study, male patients most frequently have the abnormality 47,XXY which results in Klinefelter syndrome, the most prevalent genetic cause of male infertility 43 .…”

Cytogenetic studies in reproductive function disorders: a retrospective analysis

“…Маркерні хромосоми у осіб із порушеннями репродуктивної функції описані у роботах Andó S. та співавт. [12] та Clementini E. та співавт. [13] та відсутні у Serapinas D. та співавт.…”

“…Тому каріотипування є важливим при встановленні причини непліддя. Відхилення каріотипу зафіксували у 3.1 % жінок та у 2.6 % чоловіків, що відрізняється від показників інших авторів [11][12][13]. Найвищий відсоток порушень каріотипу спостерігали у жінок із ННВ -4.2 %, найнижчий -у чоловіків із СРВ -1.4 %.…”