Molecular diagnosis of endometriosis

Endometriosis is a common benign chronic and debilitating disease that requires surgery for definitive diagnosis and has no cure. Abnormalities in the eutopic endometrium, the origin of most ectopic pelvic disease, are candidates for minimally invasive diagnostics or noninvasive diagnostics. This chapter reviews these abnormalities, including aberrant steroid hormone responses, signaling pathways, gene transcription, and epigenetic factors, as well as clinical phenotypes of the disease and current advances in molecular diagnosis of endometriosis. Evidence for P4 resistance in eutopic endometrium from women with endometriosis also comes from several global comparative microarray analyses of eutopic and ectopic endometrial tissue from women with versus without disease. It has been suggested that miRNAs are shed from tissues and released into circulation, making them appealing as noninvasive diagnostic markers of endometriosis. In endometriosis, epigenetic and concomitant gene expression abnormalities have been reported, including aberrant DNA methylation of genes relevant to the endometrial steroid hormone response.