Familial aggregation of endometriosis in the Yale Series

Ioannis Matalliotakis, Ioannis M Matalliotakis, Matalliotakis IM, Arici A, Aydin Arici, Aydın Arıcı, Hakan Çakmak, Cakmak H, Hakan Cakmak, Anastasia G Goumenou, Goumenou AG, Koumantakis G, Georgios Koumantakis, Mahutte NG, 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
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-18 ⓘ

This study found that women with endometriosis have a tenfold increased risk of endometriosis in their first-degree relatives, with no observed differences in demographic or menstrual parameters based on family history.

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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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Abstract

ObjectiveTo investigate the familial aggregation and the risk of endometriosis among the female relatives of women with endometriosis. We also compared the epidemiologic characteristics of women with and without family history of endometriosis.Patient(s)A total of 485 women with endometriosis and 197 infertile women without endometriosis underwent surgical investigation between August 1996 and February 2002.Main outcome measure(s)The relative risk of endometriosis in a first-degree relative and the association between potential risk factors was estimated by chi2 and by crude adjusted odds ratios (95% CI).ResultsEndometriosis was identified in 9.5% of first-degree relatives of women with endometriosis versus only 1% of controls. The odds ratio for endometriosis in a first-degree relative was 10.21 (95% CI 2.45-42.5; P<0.001). In 3.9% of cases women with endometriosis reported that their mother had been diagnosed with endometriosis and 5.6% of cases that at least one sister had been diagnosed. Compared to the control group the odds ratio for the mother having endometriosis (7.99, 95% CI 1.06-60.1) or at least one sister having (11.55, 95% CI 1.56-85.59) were significantly elevated. Among women with endometriosis who reported a family history of endometriosis, and women with endometriosis who did not report a family history of endometriosis, there were no differences in demographic characteristics, body habitus, or menstrual parameters.Conclusion(s)Women with endometriosis have a tenfold increased risk of endometriosis in their first-degree relatives.
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Abstract

Objective To investigate the familial aggregation and the risk of endometriosis among the female relatives of women with endometriosis. We also compared the epidemiologic characteristics of women with and without family history of endometriosis. Patient(s) A total of 485 women with endometriosis and 197 infertile women without endometriosis underwent surgical investigation between August 1996 and February 2002. Main outcome measure(s) The relative risk of endometriosis in a first-degree relative and the association between potential risk factors was estimated by χ2 and by crude adjusted odds ratios (95% CI).

Results

Endometriosis was identified in 9.5% of first-degree relatives of women with endometriosis versus only 1% of controls. The odds ratio for endometriosis in a first-degree relative was 10.21 (95% CI 2.45–42.5; P < 0.001). In 3.9% of cases women with endometriosis reported that their mother had been diagnosed with endometriosis and 5.6% of cases that at least one sister had been diagnosed. Compared to the control group the odds ratio for the mother having endometriosis (7.99, 95% CI 1.06–60.1) or at least one sister having (11.55, 95% CI 1.56–85.59) were significantly elevated. Among women with endometriosis who reported a family history of endometriosis, and women with endometriosis who did not report a family history of endometriosis, there were no differences in demographic characteristics, body habitus, or menstrual parameters. Conclusion(s) Women with endometriosis have a tenfold increased risk of endometriosis in their first-degree relatives. Similar content being viewed by others

References

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endometriosis

MeSH descriptors

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

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