Familial deep endometriosis: A rare monogenic disease?

Bertrand Isidor, Isidor B, Xenia Latypova, Xénia Latypova, Latypova X, Ploteau S, Stéphane Ploteau
European journal of obstetrics, gynecology, and reproductive biology · 2017 · vol. 221 , pp. 190–193 · doi:10.1016/j.ejogrb.2017.11.025 · PMID:29224847 · W2771426282
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This paper investigates familial deep endometriosis, exploring its potential as a rare monogenic disease.

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Abstract

Endometriosis is a frequent cause of pelvic pain and subfertility in women of reproductive age. Presence of extra-uterine endometrial-like tissue is responsible for non-specific symptoms such as chronic pelvic pain, dysmenorrhea, dyspareunia, dyschesia and sometimes infertility. Three different phenotypes according to the location of the lesions are described, namely peritoneal, ovarian and deep infiltrating endometriosis. Deep endometriosis is considered as a distinct homogeneous disease. Heritability of endometriosis has been previously demonstrated. Despite extensive efforts to characterize candidate alleles contributing to genetic basis of endometriosis, these factors relevant to endometriosis pathophysiology remain unclear. No high penetrance pathogenic variant could be identified. We report herein two families with familial aggregation of severe deep infiltrating endometriosis, providing further evidence for monogenic mendelian inheritance of this form of endometriosis.

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Condition tags

dysmenorrheadyspareuniaendometriosischronic_pelvic_pain

MeSH descriptors

Dysmenorrhea Dyspareunia Endometriosis Pelvic Pain Peritoneal Diseases Adult Dysmenorrhea Dyspareunia Endometriosis Female Humans Pedigree Pelvic Pain Peritoneal Diseases Young Adult

Citation neighborhood

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References (49)

Cited by (7)

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License: CC0 · commercial use OK