Genetic aspects of endometriosis and adenomyosis: a modern view on the problem

L.V. Adamyan, Maria Kuznetsova, L.G. Pivazyan, Yu.D. Davydova, D.Yu. Trofimov
In: Russian Journal of Human Reproduction · 2023 · vol. 29(4) , pp. 14 · doi:10.17116/repro20232904214 · W4387067123
article OA: closed CC0 ⤵ 9 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This review explores recent genetic findings regarding the etiology of endometriosis and adenomyosis, aiming to inform future diagnostic and therapeutic strategies.

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

This 2023 literature review examines genetic and molecular contributors to endometriosis and adenomyosis, using searches in PubMed and eLibrary for studies on genetic theory and genetics in adenomyosis, then selecting 58 articles for qualitative analysis after screening titles/abstracts. The review highlights a “endometriosis as a genetic disease” concept in which genetic factors are linked to progression from early microscopic/superficial lesions to typical cystic or deep infiltrative disease, with additional contributors such as oxidative stress after retrograde menstruation. Across cited transcriptomic and cell-level studies, it reports differential gene expression signatures in eutopic versus ectopic endometrial tissue and notes mutations in “driver” genes (including ARID1A and KRAS) in endometriosis-related epithelium, while also summarizing evidence on telomere length/telomerase and on regulatory noncoding RNAs (microRNAs, piRNAs). The paper does not explicitly discuss adenomyosis primary genetic findings in depth and includes limited methodological detail for many individual studies, and it is therefore a synthesis rather than new experimental data. This paper is centrally about endometriosis — it focuses on genetic and molecular mechanisms (including transcriptomic, mutational, telomere, and noncoding RNA evidence) underlying endometriosis and discusses adenomyosis separately in its conceptual framework.

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Abstract

Endometriosis is a benign gynecologic disease characterized by the presence of endometrial-like tissue outside the uterine cavity. The prevalence of this disease reaches 10—15 per cent among women of reproductive age. There is no single accepted theory of the development of both endometriosis and adenomiosis. This paper presents the genetic aspects of their etiology identified over the last decade. The aim of this literature review is to identify the etiological factors of these diseases for further development of methods of early diagnosis, identification of risk factors of development and recurrence, as well as new methods of treatment based on moleculargenetic features of endometriosis and adenomiosis.

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endometriosisadenomyosis

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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last seen: 2026-06-10T16:23:13.998983+00:00
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