The genetics and biochemistry of endometriosis

Endometriosis is a common gynecologic disorder characterized by the displacement of endometrial tissue to ectopic locations. Although predisposition to endometriosis is likely multifactorial, a genetic component is evident. The biochemistry of the disorder is an area of active investigation with translational potential. This review synopsizes recent developments regarding the molecular underpinnings of endometriosis.

Significant advancements in understanding the molecular hallmarks of endometriosis have occurred in recent years. Inflammation, attenuated progesterone action, and neuroangiogenesis constitute emerging themes in the pathophysiology of endometriosis.

Delineation of the biochemical processes involved in endometriosis has important implications for clinical care. The discovery of a sufficiently sensitive and specific biomarker for the nonsurgical detection of endometriosis promises earlier diagnosis and prevention of deleterious sequelae. Understanding the inflammatory cause, attenuated progesterone action at the level of the endometrium, and neuronal sensitization of endometriotic lesions has facilitated development of novel therapeutic approaches for associated pain and infertility.