Paradigm Shift for Endometriosis and the Potential Role of Genetic Testing – Going Beyond the 2022 ESHRE Guidelines for Endometriosis

Traian Irimia, Andrada Crișan, Teodora Cotruș, Vlad Tudorache, Mariam Dalaty, Marian Melinte, Ioana Marta Melinte
In: Journal of Interdisciplinary Medicine · 2023 · vol. 8(3) , pp. 34–36 · doi:10.2478/jim-2023-0006 · W4387097423
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This paper reviews the diagnostic limitations of current endometriosis guidelines and proposes that genetic testing, by identifying predisposition and risk, may enable earlier therapeutic management and improve patient prognosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This correspondence discusses the limitations of current endometriosis diagnostic paradigms, including the 2022 ESHRE guideline emphasis on laparoscopy with histological verification, and reviews prior biomarker evidence that has not reliably replaced surgery. It highlights that biomarkers have shown disappointing diagnostic performance, such as CA-125’s low sensitivity, and explicitly notes the guideline statement that biomarkers in tissues, blood, menstrual, or uterine fluids should not be used to diagnose endometriosis. The authors also describe their prior Eastern European case-control study linking polymorphisms in antioxidant-related genes (GPX1, CAT, GSTM1/GSTT1) with endometriosis-associated infertility, while noting discrepancies with broader literature may relate to demographic factors. This paper does not explicitly discuss adenomyosis; it is centrally about endometriosis, focusing on arguing for a potential role of genetic testing and moving beyond laparoscopy and biomarkers in diagnosis.

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Abstract

Abstract Endometriosis is a chronic inflammatory gynecological disease affecting 190 million women or 10% of women of reproductive age worldwide. The disease is marked by the presence of endometrial-like tissue outside the uterus, being associated in many cases with chronic pain and infertility. The current recommendations of international professional societies underline the need for laparoscopy, eventually followed by histological verification, as the gold standard for diagnosis. However, many societies recommend the initiation of specific treatment before obtaining a definitive surgical diagnosis. Various national and international societies have released guidelines for endometriosis assessment based on biomarkers; however, none of these recommendations proved to be clinically useful or able to replace diagnostic laparoscopy. In recent years it was demonstrated that oxidative stress, defined as an imbalance between reactive oxygen species and antioxidants that is directly linked with an increased inflammatory response in the peritoneal cavity, may be involved in the pathophysiology of endometriosis. The identification of a genetic predisposition for endometriosis can identify the patients at risk and may help clinicians promptly initiate therapeutic management of their patients in order to ameliorate their prognosis.

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Condition tags

endometriosisinfertility

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