Familial endometriosis

S Kennedy, Stephen Kennedy, Helen J. Mardon, H Mardon, David H. Barlow, D Barlow
Journal of assisted reproduction and genetics · 1995 · vol. 12(1) , pp. 32–34 · doi:10.1007/bf02214126 · PMID:7580007 · W4248912009
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This study identified 230 women with endometriosis in 100 families, revealing a familial tendency and supporting a genetic basis for the disease.

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This paper studied families in which multiple members had surgically confirmed endometriosis, identifying 230 affected women across 100 families and describing family structures and clinical characteristics. Using family relationship data, the authors found numerous multi-sibling and multi-generation clusters (including mother-daughter pairs, sister pairs, and some cases with ≥3 affected members across generations) and reported symptom onset and surgical diagnosis ages, with disease stage distribution measured using a revised American Fertility Society classification. The key finding was evidence of a familial tendency, which the authors interpret as supporting a genetic basis for endometriosis. A major limitation explicitly reflected by the design is that the cohort consisted of families ascertained by affected women, not a population-based sample. This paper is centrally about endometriosis — it characterizes familial clustering and discusses a genetic basis for inherited susceptibility.

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Abstract

Purpose The study aimed to identify families with endometriosis and to document disease seventy within the families and the clinical characteristics of the affected women.

Results

Two hundred and thirty women with surgically confirmed endometriosis in 100 families were identified. The families consisted of 19 mother-daughter pairs, 1 set of cousins and 56 sister pairs. There were 5 families with 3 affected sisters, 1 family with 5 affected sisters, and 18 families with ≥3 affected members in more than one generation. The mean age at the onset of symptoms and the mean age at surgical diagnosis was 22.1±8.8 SD (range 10–46) and 31.8±7.9 SD (range 15–56) years respectively. Seventy-nine women (34.3%) had revised AFS Stage I–II disease, and 151 (65.7%) had revised AFS Stage III–IV disease.

Conclusion

The study confirms a familial tendency for endometriosis and supports the hypothesis that endometriosis has a genetic basis. Similar content being viewed by others

References

Haupt BJ: Utilization of short-stay hospitals: annual summary for the United States, 1980. Vital Health Stat 1982;13(64):1–60 Houston DE, Noller KL, Meltson LJ III,et al: Incidence of pelvic endometriosis in Rochester Minnesota, 1970–1979. Am J Epidemiol 1987;125:959–962 Simpson JL, Elias S, Malinak LR, Buttram VC: Heritable aspects of endometriosis. I: Genetic studies. Am J Obstet Gynecol 1980;137:327–331 Coxhead D, Thomas EJ: Familial inheritance of endometriosis in a British population. A case control study. J Obstet Gynaecol 1993;13:42–44 Moen MH, Magnus P: The familial risk of endometriosis, Acta Obstet Gynecol Scand 1993;72:560–564 Moen MH: Endometriosis in monozygotic twins. Acta Obstet Gynecol Scand 1994;73:59–62 American Fertility Society: Revised American Fertility Society classification of endometriosis. Fertil Steril 1985;43:351–352 Suarez BK: The affected sib pair IBD distribution for HLA-linked disease susceptibility genes. Tissue Antigens 1978;12:87–93 Author information Authors and Affiliations Rights and permissions About this article Cite this article Kennedy, S., Mardon, H. & Barlow, D. Familial endometriosis. J Assist Reprod Genet 12, 32–34 (1995). https://doi.org/10.1007/BF02214126 Received: Accepted: Issue date: DOI: https://doi.org/10.1007/BF02214126

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Australia Australia Endometriosis Endometriosis Endometriosis Europe Europe Female Humans Hysterectomy Hysterectomy Laparoscopy Laparoscopy Laparotomy Laparotomy New Zealand New Zealand North America North America

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (8)

Cited by (50)

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