The Genetic-Epigenetic Pathophysiology of Endometriosis: A Surgeon’s View

Philippe R. Koninckx; Anastasia Ussia; L.V. Adamyan; J. Keckstein; Arnaud Wattiez; Victor Gomel; Dan C. Martin

doi:10.1007/978-3-030-52984-0_6

The Genetic-Epigenetic Pathophysiology of Endometriosis: A Surgeon’s View

Philippe R. Koninckx, Anastasia Ussia, L.V. Adamyan, J. Keckstein, Arnaud Wattiez, Victor Gomel, Dan C. Martin

In: Endometriosis in Adolescents · 2020 · pp. 173–193 · doi:10.1007/978-3-030-52984-0_6 · W3102044691

book-chapter OA: closed CC0 ⤵ 3 in-corpus citations

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

The genetic-epigenetic theory posits that endometriosis arises from cumulative genetic-epigenetic incidents in specific cell types within the peritoneal cavity, influenced by environmental factors and the microbiome.

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

This chapter reviews endometriosis pathophysiology using a genetic-epigenetic framework, proposing that cumulative genetic-epigenetic incidents in endometrial, stem, or bone marrow–derived cells occurring in an abnormal peritoneal environment drive lesion development. It highlights environmental pollution, oxidative stress from retrograde menstruation, the peritoneal microbiome, and menstrual bleeding within lesions as mechanisms contributing to oxidative stress and trauma, and argues that distinct genetic-epigenetic profiles underlie typical, cystic, and deep endometriosis as well as heterogeneity in biological behavior and associated infertility. A major caveat is that the histological definition of endometriosis is described as incomplete because it does not incorporate surgical observations such as vascularization and depth of infiltration. This paper is centrally about endometriosis — it presents a genetic-epigenetic pathophysiology model and links lesion types, environmental/oxidative mechanisms, and heterogeneity to endometriosis.

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