Endometriosis and adenomyosis: shared pathophysiology
Open accessAbstract
Endometriosis and adenomyosis are closely related disorders. Their pathophysiologies are extremely similar. Both tissues originate from the eutopically located intracavitary endometrium. Oligoclones of endometrial glandular epithelial cells with somatic mutations and attached stromal cells may give rise to endometriosis if they travel to peritoneal surfaces or the ovary via retrograde menstruation and/or may be entrapped in the myometrium to give rise to adenomyosis. In both instances, the endometrial cell populations possess survival and growth capabilities conferred by somatic epithelial mutations and epigenetic abnormalities in stromal cells. Activating mutations of KRAS are the most commonly found genetic variant in endometriotic epithelial cells, whereas the adenomyotic epithelial cells almost exclusively bear KRAS mutations. Epigenetic abnormalities in the stromal cells of endometriosis and adenomyosis are very similar and involve an abnormal expression pattern of nuclear receptors, including the steroid receptors. These epigenetic defects give rise to excessive local estrogen biosynthesis by aromatase and abnormal estrogen action via estrogen receptor-β. Deficient progesterone receptor expression results in progesterone resistance in both endometriosis and adenomyosis.
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In adenomyosis and endometriosis, the eutopic endometrium is markedly altered by inflammation-related changes, including gene mutations in glandular epithelium and epigenetic alterations in endometrial stroma.
“In both cases, the eutopic endometrium is markedly altered by inflammation-related changes, namely through gene mutations in the glandular epithelium and epigenetic alterations in the endometrial stroma (26).”
From Endometrial receptivity in adenomyosis and/or endometriosis (2023) · cites this paper as [26]
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Cited by
Sorted by citations
Endometrial receptivity in adenomyosis and/or endometriosis
Pirtea, P., de Ziegler, D., & Ayoubi, J. M. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.03.004 · Cited by 65 · see citing works
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- Authors
- Bulun, S. E., Yildiz, S., Adli, M., Chakravarti, D., Parker, J. B., Milad, M., Yang, L., Chaudhari, A., Tsai, S., Wei, J. J., & Yin, P.
- Affiliations
- Northwestern University (US)
- Corresponding author
- Bulun, Serdar E.
- ORCID
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2023-05
- Volume
- 119
- Issue
- 5
- Pages
- 746-750
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W4324370650
- Cited by
- 216
- References
- 47
- Citations by year
- 2026: 78 · 2025: 67 · 2024: 47 · 2023: 23 · 2021: 1
- FWCI
- 8.67
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Digital Collections portal (Koç University) (submittedVersion)
- Funders
- Northwestern University Feinberg School of Medicine
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Health Sciences › Medicine › Obstetrics and Gynecology › Endometrial and Cervical Cancer Treatments
- Keywords
- endometriosis, adenomyosis, shared pathophysiology, retrograde menstruation, somatic mutations, KRAS mutation, epigenetic abnormalities, stromal cells, nuclear receptors, estrogen synthesis, aromatase, estrogen receptor beta, progesterone resistance, progesterone receptor, endometrial glandular epithelial cells
- MeSH terms
- Endometriosis, Endometrium, Estrogens, Female, Humans, Uterine Diseases, Proto-Oncogene Proteins p21(ras), Adenomyosis
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