Family incidence of endometriosis in first-, second-, and third-degree relatives: case-control study

Kazem Nouri, Johannes Ott, Birgitt Krupitz, Johannes Huber, Johannes C Huber, Rene Wenzl, René Wenzl
Reproductive biology and endocrinology : RB&E · 2010 · vol. 8(1) , pp. 85 · doi:10.1186/1477-7827-8-85 · PMID:20618992 · W2014921307
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study compared endometriosis incidence in relatives of patients with and without endometriosis, finding a trend toward increased familial incidence but a less dramatic increase than previously reported.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 ⓘ

This retrospective case-control study compared the incidence of endometriosis among first-, second-, and third-degree female relatives of 80 women with laparoscopically and histologically confirmed endometriosis versus 60 women whose laparoscopy found no endometriosis, using a self-developed questionnaire administered by telephone. Relatives in the endometriosis group had more readily available family-history information, and in the primary “real-case” analysis endometriosis was reported in 8/136 (5.9%) first-degree relatives of cases versus 4/134 (3.0%) of controls, which was not statistically significant. A “worst-case” sensitivity analysis treating relatives with unknown status as affected yielded a statistically significant higher familial incidence in cases (9.6% vs 3.0%). The authors note limitations inherent to incomplete or unknown family-history information and retrospective reliance on participant-reported histories. This paper is centrally about endometriosis—family incidence of endometriosis across first-, second-, and third-degree relatives.

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Abstract

BACKGROUND: Initial publications examining the hereditary aspects of endometriosis appeared in the early seventies and demonstrated an up to seven-fold risk for endometriosis in first-degree relatives of endometriosis patients. The aim was to evaluate the influence of hereditary aspects on the endometriosis risk in our patient collective. METHODS: In a retrospective cohort study we evaluated the incidence of endometriosis among first-, second-, and third-degree relatives of endometriosis patients and compare it with its incidence among first-, second-, and third-degree relatives of patients without endometriosis. RESULT(S): Eighty patients in whom endometriosis had been confirmed laparoscopically and histologically by biopsy and 60 patients in whom no endometriosis had been found during laparoscopy were given a questionnaire about the presence of symptoms associated with endometriosis and its family incidence. Patients of both the endometriosis and the control group were 37.7 +/- 6.2 and 45.9 +/- 12.0 years of age at the time of the interview, respectively (p < 0.05). Information about the presence of endometriosis was more readily available for relatives of those in the endometriosis group than for those in the control group (325/749 [43.4%] vs. 239/425 [56.2%], p < 0.05). In 5/136 (3.7%) and 8/134 (6.0%) first-degree relatives of endometriosis patients and the control group, respectively, information about the presence of endometriosis was not available (p = 0.554). Endometriosis was found in 8/136 (5.9%) first-degree relatives of patients and in 4/134 (3.0%) first-degree relatives of controls in the real-case analysis (p = 0.248). When comparing endometriosis characteristics between endometriosis patients with and without a history of familial endometriosis, no significant differences were found. CONCLUSION(S): There is a trend toward an increased familial incidence of endometriosis. In contrast to the literature, we found a less dramatic increase in familial risk for the development of endometriosis.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Family Ovarian Diseases Adult Aged Age of Onset Case-Control Studies Endometriosis Family Health Female Humans Incidence Middle Aged Ovarian Diseases Retrospective Studies

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