JBRA Assisted Reproduction 2025;29(Suppl.2 SBRA 2025):124
Poster Presentation
29^th Annual Congress of the SBRA. São Paulo/SP - Brazil, 2025
doi: 10.5935/1518-0557.20263758

P-112. Genomic instability and cell cycle alterations in women with endometriosis: association with infertility

Liziane Virginia Pereira Freire¹, Carolina Oliveira Mendes-Aguiar¹, Janaina Cristiana Oliveira Crispim¹

¹ Universidade Federal do Rio Grande do Norte - Natal - RN - Brasil

Objective: To evaluate the frequency of genomic instability biomarkers, such as apoptosis, micronuclei (MN), nucleoplasmic bridges (NPB), and nuclear buds (NB), as well as cell cycle alterations in women with endometriosis, and to investigate their association with infertility.
Methods: This observational, cross-sectional study was conducted with 55 women diagnosed with endometriosis and treated at a teaching maternity hospital linked to the Brazilian Unified Health System (SUS) between January and April 2025. Clinical and sociodemographic questionnaires were administered, and peripheral blood samples were collected for the cytokinesis block micronucleus (CBMN) assay and for cell cycle phase analysis (G1, S, and G2) by flow cytometry. Statistical analyses included the Mann–Whitney and Kruskal–Wallis tests, as well as Spearman's correlation, with significance set at p<0.05.
Results: Preliminary findings revealed a predominance of overweight patients (BMI = 28.7±5.7 kg/m²) and advanced disease stage (83.7% with grades III–IV). Infertility was reported by 34.5% of participants, while 12.7% had never attempted to conceive. A significant negative correlation was found between disease stage and fertility (ρ = –0.41; p=0.0038), indicating that more advanced stages of endometriosis are associated with lower fertility. No statistically significant differences in genomic instability biomarkers (MN, NPB, NB, apoptosis) were observed between fertile and infertile women, although there was a trend toward higher NPB frequency among the infertile group. Regarding the cell cycle, infertile women showed a lower percentage of cells in the G2 phase compared with fertile women (median 4.01% vs. 9.48%; p=0.0203), suggesting impairment of the G2/M checkpoint, an essential stage for DNA damage repair prior to mitosis, which may negatively affect reproductive potential. Additionally, although not statistically significant, a reduction in the G1 phase and an increase in the S phase were observed in infertile women, consistent with replicative stress.
Conclusion: The findings suggest that genomic instability and cell cycle dysregulation may be involved in the pathophysiology of endometriosis and its association with infertility. Despite the lack of statistical significance for some parameters, the preliminary data highlight relevant trends that warrant expanding the sample size for validation. Characterizing these cellular and molecular alterations could enable the development of non-invasive diagnostic methods and targeted therapeutic approaches aimed at improving reproductive outcomes in women with this condition.