Genes Identified for Familial Cases of Endometriosis: A Scoping Review

Endometriosis is an estrogen‐dependent severe gynecological disease, characterized by the development of endometrial tissue outside the uterine cavity in women of reproductive age. It presents with symptoms of chronic pelvic pain, dyspareunia, dyschezia, dysmenorrhea, menorrhagia, fatigue, and results in impaired fertility. Like most infertility disorders, endometriosis too has a multifactorial, polygenic etiology. However, familial cases of severe endometriosis have been reported in literature, and various studies have pointed towards familial aggregation, indicating monogenic causes for the disease. This scoping review collates genetic information from all studies pointing to monogenic causes of this disorder.