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Some types of endometriosis may be present from birth

A new understanding of the origins of endometriosis suggests that there may be different subtypes of the condition that could benefit from different treatments
Endometrial tissue (dark purple) inside an ovary
Endometrial tissue (dark purple) inside an ovary
OGphoto/Getty Images

One in 10 women live with endometriosis, but we still don’t know its exact cause. New evidence suggests that some cases may be present from birth, and that different subtypes of the condition may benefit from different treatments.

Endometriosis is diagnosed when endometrial cells from the lining of the uterus are found elsewhere in the body. When people with the condition menstruate, these patches of cells, wherever they are, bleed.

This is thought to be at least partly responsible for the debilitating pain people with endometriosis often experience, although we still don’t really know. Those affected often find it harder to conceive, too.

One of the more established ideas to explain what causes endometriosis suggests that these rogue cells are the product of “retrograde menstruation”. The idea is that some menstrual blood ends up being returned into the body, taking these uterine cells with it and enabling them to implant in the wrong place.

But this idea doesn’t explain all cases of endometriosis, says Katie Leap at the University of California, Los Angeles. “You can find endometriosis in fetuses, in men and in girls who haven’t menstruated,” she says.

To learn more about the problematic patches of cells, known as lesions, Leap and her colleagues compared them with typical cells found in the uterus lining. Specifically, they looked at the cells’ epigenetic age: their biological age based on the presence or absence of chemicals that switch genes on or off.

The researchers analysed tissue samples collected from 60 women, 35 of whom had endometriosis. They found that the biological ages of the tissues were different. While uterus cells had an age similar to the women’s chronological age, the cells from endometriosis lesions were around 16 years younger on average (bioRxiv, ).

The biological ages of these lesions were actually more like those of teratomas: tumours formed of multiple cell types, sometimes including hair and teeth, which can form during embryo development.

The researchers say this suggests some endometriosis lesions may also appear this early. As an embryo develops, cells that eventually form the uterus must move into the correct position. But “it’s possible that some tissue gets left behind”, says Leap. “That’s what happens with teratomas.”

This doesn’t mean that retrograde menstruation doesn’t happen, but Leap says it is unlikely to be the only cause of the different subtypes of endometriosis. The finding may improve diagnosis and treatment.

This evidence is suggestive, but not yet strong enough to confirm the idea, says Caroline Gargett at Monash University in Melbourne, Australia. The idea that endometriosis lesions are present at birth is “still a theory waiting to be proven with more detailed studies”, she says.