It consists of a gynecological disorder characterized by the presence of endometrial tissue beyond the uterus, most commonly in the ovaries, fallopian tubes, and the tissue lining the pelvis, and less frequently beyond the pelvic organs. It is estimated to occur in 10% of women of reproductive age and leads to fertility problems, although effective treatments exist.

There are various theories. One indicates that fragments of the endometrium itself that detach during menstruation travel from the fallopian tubes to the ovaries to eventually penetrate the abdominal cavity. It has also been postulated that endometrial cells can move through the bloodstream or lymphatic vessels to another location, or that cells located outside the uterus can transform into endometrial cells. Additionally, an alteration of the immune system has been suggested, in which it is not able to destroy the ectopic tissue deposited outside the uterus. However, the exact cause of endometriosis remains unclear.

Furthermore, apart from the hereditary-family component described for endometriosis, there are other factors that increase the risk of developing this condition, such as the following:

  • Not having given birth.
  • Starting menstruation at an early age or reaching menopause at an older age, which implies greater exposure to estrogens.
  • Irregular menstrual cycles, whether short (less than 27 days) or heavy, lasting more than seven days.
  • Low body mass index.
  • Disorders of the reproductive system or structural abnormalities of the uterus.


Since it is endometrial tissue, it follows the same cycle as the tissue located in the uterus with menstruation in response to hormones, so it may bleed but remain confined in the pelvic space, causing pain and inflammation. It is a pain similar to menstrual periods, but of greater intensity that can also increase over time. The intensity of endometriosis symptoms does not depend on the amount of endometrial tissue outside its usual place. Symptoms vary greatly among women, but the most common ones include:

  • Painful periods (dysmenorrhea). The pain and cramps may begin before and continue for several days after the period. It may extend to the lower back and abdomen.
  • Irregular menstruation.
  • Pain during or after sexual intercourse.
  • Pain during bowel movements or urination, most likely during the menstrual period.
  • Excessive bleeding, including intermenstrual bleeding.

Other symptoms that may accompany endometriosis, especially during the period, will depend on the location of the endometrial tissue, including abdominal bloating, diarrhea or constipation, rectal bleeding (involvement of the large intestine), frequent and urgent need to urinate, and blood in the urine (involvement of the bladder). Being estrogen-dependent, symptoms improve after menopause and during pregnancy.


It is not possible to establish guidelines for the prevention of endometriosis since its cause is unknown. It is a common disease that probably begins to develop with the onset of menstruation, although it is generally not diagnosed until the age of 25-35. However, it is possible to reduce exposure to estrogens as much as possible by following a healthy diet based on foods rich in fiber, iron, and omega 3, avoiding alcohol and caffeinated drinks, as well as leading an active life and exercising regularly.

Number of observed variants

13.5 million variants

Number of risk loci

13 loci

Genes analyzed



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