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Endometriosis, Genetic Testing

Endometriosis is a chronic condition in which tissue similar to the lining of the uterus grows outside the uterus. This can cause pain, inflammation, and adhesion formation. Management includes painkillers, hormone therapy, and, in some cases, surgery to remove abnormal tissue. The assessment of the Polygenic Risk Score for endometriosis is based on the examination of 13 gene polymorphisms.

Genetic testing for endometriosis is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

It is a gynecological disorder characterized by endometrial tissue beyond the uterus, most often in the ovaries, fallopian tubes, and tissue lining the pelvis and more rarely beyond the pelvic organs. It is estimated that it occurs in 10% of women of reproductive age and leads to fertility problems, although there are effective treatments. There are several theories for the origin of endometriosis. Some suggest that fragments of the endometrium itself that are expelled during menstruation travel from the fallopian tubes to the ovaries and eventually enter the abdominal cavity. It has also been hypothesized that endometrial cells may travel through the bloodstream or lymphatic vessels to another location or that cells outside the uterus may turn into endometrial cells. In addition, a change in the immune system has been proposed in which the immune system cannot destroy ectopic tissue deposited outside the uterus. However, the exact cause of endometriosis remains unclear.

In addition, in addition to the hereditary-familial element described for endometriosis, other factors increase the risk of developing this condition, such as the following:

  • No previous birth
  • The onset of menstruation at an early age or menopause at an advanced age, which implies greater exposure to estrogen
  • Irregular menstrual cycles, either short (less than 27 days) or heavy menstrual cycles of more than seven days
  • Low body mass index
  • Disorders of the reproductive system or structural abnormalities of the uterus

Since it is an endometrial tissue, it follows the same cycle as the corresponding tissue found in the uterus with menstruation in response to hormones so that it may bleed. Still, it will be confined to the pelvic space, causing pain and inflammation. It is a pain similar to that of menstrual periods but of greater intensity that can also increase over time. The intensity of symptoms of endometriosis does not depend on the amount of endometrial tissue outside its usual location. Symptoms are very varied among women, but the most common include:

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

Other symptoms that may accompany endometriosis, especially during periods, will depend on the location of the endometrial tissue, i.e., swelling of the abdomen, diarrhea or constipation, rectal bleeding (colon involvement), frequent and urgent need to urinate, bloody urine (bladder blockage). Because estrogen-dependent, symptoms improve after menopause and during pregnancy.


Establishing guidelines for preventing endometriosis is impossible as its cause is unknown. It is a common disease that most likely begins to develop with the onset of menstruation, although it is not diagnosed until the age of 25-35 in general. However, it is possible to reduce estrogen exposure as much as possible by following a healthy diet based on foods rich in fiber, iron, and omega-3 fatty acids, avoiding alcohol and caffeinated beverages, leading an active life, and exercising regularly.

Additional information
Results Time4 - 5 Weeks
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