New concepts on the etiology of endometriosis

• DOI: 10.1111/jog.15549
• Publication Date: 2023-02-07T01:53:37Z
• Authors: Fiona L. Cousins; Brett D. McKinnon; Sally Mortlock; Harriet C. Fitzge...; Chenyu Zhang; Grant W. Montgomery; Caroline E. Gargett
• Keywords: Etiology; Massive parallel sequencing

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