New concepts on the etiology of endometriosis

Abstract

Endometriosis is a serious, chronic disorder where endometrial tissue grows outside the uterus, causing severe pelvic pain and infertility. It affects 11% of women. Endometriosis is a multifactorial disorder of unclear etiology, although retrograde menstruation plays a major role. It has a genetic component with over 40 genetic risk factors mapped, although their mechanism of action is still emerging. New evidence suggests a role for retrograde menstruation of endometrial stem/progenitor cells, now that identifying markers of these cells are available. Recent lineage tracing and tissue clearing microscopy and 3D reconstruction has provided new understanding of endometrial glandular structure, particularly the horizontal orientation and interconnection of basalis glands. New sequencing technologies, particularly whole genome DNA sequencing are revealing somatic mutations, including in cancer driver genes, in normal and eutopic endometrium of patients with endometriosis, as well as ectopic endometriotic lesions. Methylome sequencing is offering insight into the regulation of genes and the role of the environmental factors. Single cell RNA sequencing reveals the transcriptome of individual endometrial cells, shedding new light on the diversity and range of cellular subpopulations of the major cell types present in the endometrium and in endometriotic lesions. New endometrial epithelial organoid cultures replicating glandular epithelium are providing tractable models for studying endometriosis. Organoids derived from menstrual fluid offer a non‐invasive source of endometrial tissue and a new avenue for testing drugs and developing personalized medicine for treating endometriosis. These new approaches are rapidly advancing our understanding of endometriosis etiology.

Social Media, Endometriosis, and Evidence-Based Information: An Analysis of Instagram Content

“…The description of “tissue that lines the uterus” versus “endometrial-like” or “tissue similar to the lining of the uterus” has been discussed heavily in the literature [ 34 , 35 , 36 , 37 , 38 ]. While there are some features that are similar between the tissues, i.e., the endometrium of an individual with endometriosis (eutopic, inside the uterus) versus the endometriosis lesion (ectopic, outside of the uterus), there are also obvious functional and histological differences [ 39 ]. This adds an additional layer of complexity for those trying to explain and communicate endometriosis online.…”

New Insights into Genetics of Endometriosis—A Comprehensive Literature Review

“…We set out to highlight the future directions for research in the field of endometriosis genetics, but further validation and replication studies are needed to confirm the clinical utility of genetic markers and their potential translation into routine clinical practice. Large-scale multi-center collaborations are essential, as well, to overcome the challenges of genetic heterogeneity and ensure the generalizability of diagnostic tools across diverse populations [ 27 ].…”

“…New genomic technologies, such as next-generation sequencing (NGS), have revolutionized the field of endometriosis diagnosis by providing more comprehensive and accurate genomic information [ 27 , 28 ]. Here, we provide an explanation of how these technological advances have facilitated advancements in endometriosis diagnosis: Comprehensive Genomic Profiling …”

The Role of Selected Dietary Factors in the Development and Course of Endometriosis

“…Endometriosis is a chronic hormone-dependent disease affecting ~10% of women of reproductive age, translating to nearly 200 million women worldwide [ 1 , 2 , 3 , 4 ]. This makes it one of the most common gynecological conditions of the reproductive period.…”