Endometriosis Genetics

Endometriosis is a condition in which pieces of the uterine lining grow outside the uterus. They stick to other pelvic structures, including the ovaries, bowel, fallopian tubes and bladder. Endometriosis is not a cancer, but it can lead to infertility in some cases.

Roughly 10 to 15 percent of women have endometriosis. It can affect adolescents as well as adults.

The main symptoms of endometriosis are painful periods and pelvic pain. Other symptoms include:

  • abdominal tenderness
  • backache
  • cramping
  • diarrhea
  • excessively heavy periods
  • infertility
  • intestinal pain
  • pain during sex
  • painful pelvic exams.

Endometriosis and Genetics

Is endometriosis genetic? While the exact cause of endometriosis is unknown, some scientists believe that it may be caused by a genetic mutation. The cells that are normally responsible for the growth of a woman’s reproductive organs change into endometrial tissue outside the uterus.

Studies have shown that a woman’s chances of contracting endometriosis are 5 to 7 percent higher if she has a mother or sister with the disorder. Also, endometriosis with a family link tends to be more aggressive and is often at a higher stage when first detected.

Causes of Endometriosis

Risk factors for endometriosis include:

  • damage to cells surrounding the pelvis from an infection
  • having a medical condition affecting normal menstrual flow
  • having a mother or sister who was diagnosed with endometriosis
  • having short menstrual cycles or excessively long periods (with bleeding lasting longer than eight days)
  • never giving birth
  • white or Asian ethnicity.

Genetic Testing for Endometriosis

Doctors have not yet found the gene responsible for causing endometriosis. Once they do, genetic testing for endometriosis may be a possibility. Testing would help doctors identify women with a high risk of developing the disorder. It would also help with screening and diagnosis, and may even prevent endometriosis in some cases.

Endometriosis and Fertility

One of the most common results of endometriosis is infertility. About 30 to 50 percent of women with endometriosis have trouble conceiving.

Many women with mild to moderate endometriosis are still able to get pregnant. It may take a little longer than normal to conceive, but it’s possible for many women. The symptoms of the disorder subside during pregnancy.

Screening for Endometriosis

Your doctor can do an early test for endometriosis by performing a pelvic exam or an ultrasound. Both of these tests will help your physician find cysts caused by endometriosis.

The only way to correctly diagnose endometriosis, however, is by a procedure called laparoscopy – a minor surgical process that allows your doctor to view your pelvis and reproductive organs with a miniature camera. Your doctor can then make a full diagnosis and discuss treatment options with you.

Treating and Curing Endometriosis

Endometriosis is usually treated with medication. Over-the-counter pain medications can relieve mild symptoms. More severe endometriosis may require hormonal therapy, including birth-control pills or drugs.

If surgery is required, doctors can remove the growths and scar tissue without harming the reproductive organs. This is the best surgical option for women who still wish to become pregnant.

In severe cases, endometriosis can be treated with a complete hysterectomy and removal of the ovaries. This procedure is only used after all other options have been exhausted.

In any case, surgery is an absolute last resort. A doctor will not perform either surgery on a woman of childbearing age without first exploring every other possible option.


Doctors Lounge (2007). Endometriosis. Retrieved November 11, 2008, from the Doctors Lounge Web site: http://www.doctorslounge.com/gynecology/diseases/endometriosis.htm.

Mayo Clinic Staff (2008). Endometriosis. Retrieved November 11, 2008, from the Mayo Clinic Web site: http://www.mayoclinic.com/health/endometriosis/DS00289.

National Women’s Health Resource Center (2007). Endometriosis. Retrieved November 11, 2008, from the Healthy Women Web site: http://www.healthywomen.org/healthtopics/endometriosis.