A modern view of the problem of endometriosis from a genetic point of view (literature review)

N.P. Bondarenko, V.V. Kurochka, I.V. Maidannyk, O. A. Chorna, M.S. Babenko
In: Medicine Today and Tomorrow · 2025 · vol. 3(94) , pp. 110 · doi:10.35339/msz.2025.94.3.bkm · W7124289513
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Abstract

Background. Endometriosis ranks third in the structure of gynecological morbidity, occurs in [5–10]% of women of reproductive age and is a relevant problem of today due to the increase in the frequency and prevalence of the pathological process. It is accompanied by a violation of menstrual function, reproductive health, pain syndrome, reduces the quality of life of women. Aim. To analyze foreign literary sources and study the problem of endometriosis from a genetic point of view at the present stage. Materials and Methods. The study was carried out using the bibliosemantic method and the method of system analysis. The study was conducted as a private initiative of the authors. Research Ethics. Studies were selected for the review, the performers of which adhered to ethical standards. The study did not require informed consent and approval of ethics committees. Results. The prevalence of endometriosis worldwide reaches 10% among women of reproductive age (190 million people according to the World Bank's 2017 population estimates). The incidence of confirmed endometriosis is [187.0–298.0] cases per 100,000 women over the age of 15. The peak of the rate falls in the 25–34 age group ([380.6–417.0] cases per 100,000 people). The literature indicates data on a tendency for this pathological process to increase and, accordingly, for the cost of treating endometriosis to rise in many countries around the world. Research proves the intrauterine influence of the synthetic estrogen diethylstilbestrol on the development of endometriosis as a result of disrupted fetal estrogen receptor expression. The development of endometriosis can be caused by early menarche, menstrual cycles shorter than 26 days in late adolescence and reproductive age, tall height of adult women, excessive consumption of trans-unsaturated fats, red meat, exposure to chemicals (polychlorinated biphenyls, dioxin), and night work. Genetic factors in the pathogenesis of endometriosis include disorders of cell adhesion, cell migration, angiogenesis, and inflammatory and hormonal metabolic pathways. Most epigenetic studies are focused on the methylation of DeoxyriboNucleic Acid (DNA). Examples of replicated epigenetic changes are DNA hypermethylation and the silencing of endometrial genes that are normally expressed during the secretory phase of the menstrual cycle, which affects the proliferation and invasion of endometrial cells into surrounding tissues. Conclusions. From the point of view of the evolution of the disease phenotype, endometriosis is taking on new shapes. The development and course of the disease depends on highly organized influences with generalizing properties – the constitution, its components, somatotype. Such levels of organization include genetic, i.e. deterministic, and environmental factors that play a leading role in the phenotypic implementation of the genetic basis within the normal reaction. Keywords: gynecology, endometrial disease, reproductive-age women, women's infertility, risk factors, quality of life.

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