Results
| PMID | 21150157 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 1 |
| Population details | 1 |
| Age | 25 yr |
| Sex | Female |
| Associated genes | HSD11B1 |
| Other associated phenotypes |
PCOS |
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Gynecol Obstet Invest. 2011;71(2):77-86. doi: 10.1159/000320736. Epub 2010 Dec 9. Syrcle, S M| Pelch, K E| Schroder, A L| Nichols, B M| Mills, M P| Barrier, B F| Havey, A D| Nagel, S C Department of Obstetrics, Gynecology and Women's Health, University of Missouri School of Medicine, Columbia, MO 65212, USA. BACKGROUND: In a university hospital setting, a 25-year-old woman presented with large vaginal and cervical polyps. Past medical history was significant for stage IV endometriosis. Polypectomy was performed and the polyps were histologically consistent with endometriosis. Gene expression was compared with control vaginal tissue to assess if the altered gene expression profile was similar to peritoneal endometriosis. METHODS AND RESULTS: Using quantitative reverse transcription, real-time PCR, estrogen receptor-beta expression was found to be upregulated 10-fold while estrogen receptor-alpha expression was downregulated 5-fold in the vaginal polyp relative to control vaginal tissue. The estrogen-synthesizing enzyme aromatase was upregulated 8-fold and 3beta-hydroxysteroid dehydrogenase was upregulated 400-fold in the polyp. Immunohistochemical staining revealed altered cell type localization for progesterone receptor in the polyp and increased cell proliferation in polyp stromal cells relative to control. CONCLUSIONS: Increased proliferation in the vaginal polypoid endometriotic tissue may be due to increased local estrogen production. The altered gene expression profile was very similar to the altered gene expression profile seen in peritoneal endometriosis. Mesh Terms: Adolescent| Adult| Endometriosis/genetics/*metabolism/pathology| Estrogen Receptor alpha/genetics/metabolism| Estrogen Receptor beta/genetics/metabolism| Estrogens/*biosynthesis| Female| *Gene Expression| Gene Expression Profiling| Humans| Middl |
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