Familial aggregation of endometriosis in the Yale Series

Ioannis Matalliotakis, Ioannis M Matalliotakis, Aydin Arici, Aydın Arıcı, Hakan Cakmak, Hakan Çakmak, Anastasia G Goumenou, Georgios Koumantakis, Neal G Mahutte, Neal Mahutte
Archives of gynecology and obstetrics · 2008 · vol. 278(6) , pp. 507–511 · doi:10.1007/s00404-008-0644-1 · PMID:18449556 · W2060345783
article OA: closed CC0 ⤵ 45 in-corpus citations
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-06 ⓘ

Women with endometriosis have a tenfold increased risk of the disease in their first-degree relatives, with significantly elevated odds ratios for mothers and sisters.

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

This study investigated familial aggregation and estimated the risk of endometriosis among first-degree female relatives of women with surgically confirmed endometriosis, comparing them with infertile women without endometriosis who underwent surgical investigation at Yale. Among 485 women with endometriosis and 197 controls (1996–2002), endometriosis was found in 9.5% of first-degree relatives of cases versus 1% of controls, yielding an odds ratio of 10.21 (95% CI 2.45–42.5; P<0.001) for endometriosis in a first-degree relative. Mothers and sisters of affected women had significantly elevated odds of having endometriosis, and women with and without reported family history showed no differences in demographic characteristics, body habitus, or menstrual parameters. The paper does not state a specific limitation in the provided text, but the main caveat is that it relies on relative diagnoses ascertained through reported/recorded information rather than genetic testing. This paper is centrally about endometriosis — it quantifies familial aggregation and the increased risk among first-degree relatives in the Yale Series.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Adult Connecticut Connecticut Endometriosis Endometriosis Family Female Humans Odds Ratio Prevalence Retrospective Studies

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