Koninckx · Fertility and sterility 2019 · narrative review · n=?

Pathogenesis of endometriosis: the genetic/epigenetic theory.

Cited 425 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

Narrative review and mechanism-based theoretical model without primary data or systematic review methods.

PubMed 30527836 · doi:10.1016/j.fertnstert.2018.10.013 · record verified 2026-08-26

What was done

This is a narrative review and theoretical framework evaluating observations on the pathophysiology of endometriosis to propose an alternative disease model. No clinical intervention, trial, or systematic review methodology was employed.

What was found

The abstract reports no numerical or quantitative findings. It presents a theoretical model proposing that a combination of inherited genetic and epigenetic factors transmitted at birth accounts for disease predisposition, heredity, and systemic endometrial and immunological changes, while subsequent cumulative genetic and epigenetic alterations in target cells drive progression into typical cystic ovarian or deep endometriosis lesions.

Why it matters

Provides a comprehensive hypothesis to explain the clonal origin, hereditary patterns, and clinical heterogeneity of endometriosis that are not fully explained by retrograde menstruation or metaplasia theories alone.

Limits

The paper is a conceptual hypothesis and narrative overview without original empirical human data, quantitative metrics, or systematic search methodology.

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