Molecular pathophysiology of endometriosis: from genetic mechanisms to novel therapies

Introduction. Endometriosis is a chronic, estrogen-dependent inflammatory disease characterized by the presence of endometrial tissue outside the uterine cavity. It affects approximately 10% of women of reproductive age, and its symptoms — chronic pelvic pain, dysmenorrhea, and infertility — significantly reduce patients’ quality of life. The etiology of endometriosis remains incompletely understood, and its pathogenesis involves complex interactions among genetic, epigenetic, immunologic, and hormonal signaling factors. Material and methods. This review summarizes current knowledge on the genetic, epigenetic, immunologic, and molecular mechanisms involved in the pathogenesis of endometriosis, with particular emphasis on high-throughput techniques, molecular biomarkers, and multi-omics approaches. Results. Family and twin studies confirm a substantial genetic component of endometriosis; however, most identified genetic variants have low penetrance. Advances in high-throughput techniques, such as next-generation sequencing (NGS), have enabled the identification of novel molecular biomarkers, including cytokines, miRNAs, and lncRNAs, which may have diagnostic and prognostic value. The use of multi-omics approaches allows data from genomics, epigenetics, transcriptomics, and proteomics to be integrated, facilitating a deeper understanding of the complex etiology of the disease. Endometriosis shows considerable clinical and molecular heterogeneity, complicating both diagnosis and treatment. Current therapeutic methods, mainly hormonal and surgical, are often ineffective and associated with a high risk of recurrence. Conclusions. Novel targeted treatment strategies based on the molecular mechanisms of endometriosis are under development. Key research challenges include the development of noninvasive diagnostic tools, biomarker validation, and the implementation of precision medicine, which may improve treatment efficacy and quality of life in patients with endometriosis.