Heritable aspects of endometriosis

J L Simpson, Joe Leigh Simpson, Sherman Elias, Elias S, S Elias, L. Russell Malinak, Malinak LR, L R Malinak, Veasy C. Buttram, V C Buttram, Buttram VC Jr
American Journal of Obstetrics and Gynecology · 1980 · vol. 137(3) , pp. 327–331 · doi:10.1016/0002-9378(80)90917-5 · PMID:7377252 · W1506736207
article OA: closed CC0 ⤵ 380 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-06 ⓘ

This paper investigates the genetic and familial factors contributing to the development of endometriosis, exploring its heritable nature.

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Abstract

Systematic genetic studies in endometriosis apparently have not been conducted; therefore, we studied 123 patients with histologically proved endometriosis. Nine of 153 (5.8%) female sibs (over age 18) of patients with histologically proved endometriosis were considered similarly affected; 10 of 123 mothers (8.1%) were affected; 19 of 276 (6.9%) of all first-degree relatives were affected. By contrast, only one of 104 (1.0%) female sibs of their husbands and only one of 107 (0.9%) mothers of their husbands were affected, significantly (p less than 0.05) less for both sibs and mothers. Several genetic etiologies can be postulated, but polygenic/multifactorial inheritance seems most likely because of (1) the 6.9% recurrence risk for all first-degree relatives and (2) observations that the 18 patients with an affected first-degree relative were more likely to have severe endometriosis than those without an affected first-degree relative.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Pelvic Neoplasms Adolescent Adult Endometriosis Female Humans Neoplasm Recurrence, Local Pedigree Pelvic Neoplasms

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 (15)

Cited by (50)

Source provenance

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