Kliber-Gałuszka Michalina, Kulczyńska-Figurny Klaudia, Jagodziński Paweł Piotr, Pławski Andrzej
Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Święcickiego 6 St., 61-701, Poznan, Poland.
Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32 St., 60-479, Poznan, Poland.
J Appl Genet. 2025 Oct 13. doi: 10.1007/s13353-025-01021-y.
Endometriosis is a chronic gynecological condition characterized by the presence of endometrial-like tissue outside the uterine cavity. Its diagnosis remains a significant clinical challenge, often delayed by 7 to 12 years, leading to considerable socio-economic burden and a substantial decline in patients' quality of life, including potential infertility. Consequently, there is an urgent need to identify reliable biomarkers that would allow for earlier and more accurate detection. This review provides a comprehensive and up-to-date analysis of potential biomarkers for the diagnosis of endometriosis, including hormonal, inflammatory, genetic, epigenetic, immunological, metabolic, and imaging-based markers. Their diagnostic value and limitations are critically assessed, with particular emphasis on the advantages of multimarker and integrated diagnostic approaches to enhance early detection. The findings of this review offer valuable insights for clinicians, researchers, and healthcare professionals working to develop better diagnostic methods and improve patient outcomes. Moreover, the integration of emerging technologies, such as artificial intelligence, offers promising opportunities to revolutionize endometriosis diagnostics through personalized and precise medical care.
子宫内膜异位症是一种慢性妇科疾病，其特征是子宫腔外存在类似子宫内膜的组织。其诊断仍然是一项重大的临床挑战，通常会延迟7至12年，导致相当大的社会经济负担以及患者生活质量大幅下降，包括可能导致不孕。因此，迫切需要识别可靠的生物标志物，以便能够更早、更准确地进行检测。本综述对子宫内膜异位症诊断的潜在生物标志物进行了全面且最新的分析，包括激素、炎症、遗传、表观遗传、免疫、代谢和基于影像学的标志物。对它们的诊断价值和局限性进行了严格评估，特别强调了多标志物和综合诊断方法在提高早期检测方面的优势。本综述的研究结果为致力于开发更好诊断方法和改善患者预后的临床医生、研究人员和医疗保健专业人员提供了有价值的见解。此外，人工智能等新兴技术的整合提供了有前景的机会，可通过个性化和精准医疗彻底改变子宫内膜异位症的诊断。
