Approximately 176 million women worldwide are affected by endometriosis.

Millions more don't know they have it—even though they have pelvic pain, irregular bleeding, and even infertility. And countless other women are at high risk for developing endometriosis in the future.

New genetic studies, however, may help determine who's at risk for developing this painful condition and how to treat it before it causes permanent damage.

What Is Endometriosis?

Endometriosis is a condition in which tissue that normally lines the inside of the uterus (and is shed during menstruation), grows outside the uterus on other pelvic organs. Endometrial tissue grows and sheds along with a woman's menstrual cycle.

With endometriosis, this extra tissue, (which can attach almost anywhere in the pelvis including the ovaries, bladder, intestines, and in the vagina), causes inflammation, excess bleeding, and sometimes severe pain. If left untreated, endometriosis can also cause scarring, which can lead to infertility. Women are usually diagnosed between ages 25 and 35, which means they may be affected by endometriosis for decades before they receive treatment.

New Gene Studies

Doctors have long known that endometriosis can be inherited, but don't know for certain which women will get it and which ones won't. New genetic studies published in Nature Genetics may lead scientists to understanding more about how to determine which women are at high risk for developing the painful condition.

In a large-scale study conducted with the Wellcome Trust Centre for Human Genetics, scientists compared the genes of more than 5,500 women with endometriosis to more than 9,300 women without it. They discovered that women who had two different genetic variants were more likely to have endometriosis. The two genetic variants occurred on:

  • Chromosome 7, which is involved in uterine development
  • Chromosome 1, which is involved in development of the female reproductive system

While further studies are needed to confirm these genetic links to endometriosis, scientists feel this could lead them to finding new and better ways to diagnose and treat the condition.

Currently, endometriosis is diagnosed through pelvic exam, ultrasound, and a surgical procedure called laparoscopy. It is treated with a combination of medications including hormonal contraceptives and pain medication and sometimes surgery. In extreme cases, the only option for stopping debilitating pain is hysterectomy (surgical removal of the uterus).

Scientists and doctors hope this new genetic information could prevent endometriosis from damaging women's pelvic organs and from causing pain, bleeding, and infertility.




Genetic variants linked to increased risk of common gynaecological disease. The Wellcome Trust Center for Human Genetics. Web. 2010.

Endometriosis. National Institutes of Health. Web. 25 July 2011.