Endometriosis: the pathophysiology as an estrogen-dependent disease

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This review explores the pathophysiology of endometriosis, focusing on its development and progression as a disease driven by estrogen.

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Abstract

Endometriosis, defined as the presence of endometrial glands and stroma outside of the uterine cavity, develops mostly in women of reproductive age and regresses after menopause or ovariectomy, suggesting that the growth is estrogen-dependent. Indeed, the lesions contain estrogen receptors (ER) as well as aromatase, an enzyme that catalyses the conversion of androgens to estrogens, suggesting that local estrogen production may stimulate the growth of lesions. The expression patterns of ER and progesterone receptors in endometriotic lesions are different from those in the eutopic endometrium. Moreover, estrogen metabolism, including the expression pattern of aromatase and the regulation of 17 beta-hydroxysteroid dehydrogenase type 2 (an enzyme responsible for the inactivation of estradiol to estrone), is altered in the eutopic endometrium of women with endometriosis, adenomyosis, and/or leiomyomas compared to that in the eutopic endometrium of women without disease. Immunostaining for P450arom in endometrial biopsy specimens diagnosed these diseases with sensitivity and specificity of 91 and 100%, respectively. This is applicable to the clinical diagnosis of endometriosis. The polymorphisms in the ER-alpha gene, the CYP19 gene encoding aromatase, and several other genes are associated with the risk of endometriosis. Studies of these will lead to better understandings of the etiology and pathophysiology of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometrium Estrogens 17-Hydroxysteroid Dehydrogenases 17-Hydroxysteroid Dehydrogenases Endometriosis Endometrium Estrogen Receptor alpha Estrogens Female Humans Immunohistochemistry Polymorphism, Genetic Receptors, Estrogen Receptors, Estrogen Receptors, Estrogen Receptors, Steroid Receptors, Steroid

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References (58)

Cited by (50)

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europepmc
last seen: 2026-10-03T06:16:46.921020+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:12:55.732728+00:00
License: CC0 · commercial use OK