The Polycystic Ovary Syndrome and Autism Link: What You Need to Know

Women with PCOS often face difficulty in getting a diagnosis.

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Women with polycystic ovary syndrome (PCOS) may be more likely than others to bear a child with autism, according to a study from the University of Cambridge’s Autism Research Centre.

About 1 in 10 women of reproductive age is affected by PCOS, which occurs when a woman produces high levels of testosterone. The condition is linked to having fluid-filled sacs known as follicles in the ovaries, and is also characterized by excessive body hair and irregular menstrual cycles.

The study findings may complicate treatment for a disease that’s already problematic for many in the medical community. According to a recent survey, many women with PCOS have to wait years before they finally get a diagnosis and report not feeling supported by their doctors even after diagnosis.

The report linking PCOS to autism appeared in the journal Translational Psychiatry earlier this month.

What women with PCOS should know about having children

For this study, the team from the Autism Research Centre looked at health records of 8,588 women with PCOS and their firstborn children. They then compared them to the records of 41,127 women without the disorder. After considering other factors, they found that women with PCOS had a 2.3 percent chance of having a child with autism compared with a 1.1 percent chance for women without PCOS.

When they looked at the same data, the Cambridge researchers also noted that women with autism were more likely to have PCOS, and women with PCOS were more likely to have autism — something that indicates the conditions are linked, the researchers say.

The same team previously found that children with autism have elevated levels of sex steroid hormones including testosterone.

Even if you have PCOS, the chances of having a child with autism are still very low, the researchers stressed. They say the finding, however, gives the medical community an important clue in understanding factors that cause autism.

“This is an important piece of new evidence for the theory that autism is not only caused by genes but also by prenatal sex steroid hormones such as testosterone,” Adriana Cherskov, a student involved in the study, said in a statement.

Simon Baron-Cohen, PhD, a professor who heads up the research center at the University of Cambridge, said that the hormonal effects are “not necessarily independent of genetic factors, as a mother or her baby may have higher levels of the hormone for genetic reasons, and testosterone can affect how genes function.”

“We need to think about the practical steps we can put in place to support women with PCOS as they go through their pregnancies,” added Carrie Allison, PhD, another researcher involved in the study.

Medical care for women with PCOS

The study results come as it’s being reported that many women with PCOS already don’t feel comfortable with their medical care and believe that steps need to be taken to improve their treatment.

A survey published this month in the Journal of the Endocrine Society found that women with PCOS think their primary care physicians are less qualified and spend less effort on them compared with other patients. These women also reported arguing with their physician more than other women.

That survey examined 322 women — 134 with PCOS and 198 without it.

Other factors that may affect autism development

Dr. Serena Chen, a fertility doctor from St. Barnabas Hospital in New Jersey who is not affiliated with the research, said that the mechanism linking testosterone to autism is likely not maternal testosterone levels. Even if a mother received a high dose, the placenta has such high levels of aromatase (an enzyme that converts testosterone to estrogen) that the testosterone wouldn’t reach the fetus.

Women with PCOS have only mildly elevated levels of testosterone. At least half of those with PCOS have normal levels, Chen noted.

Instead, she thinks maternal BMI could be a factor in autism.

“There have been studies in the past showing a correlation (not causation) between maternal obesity and an increased risk for autism,” Chen explained. “PCOS patients have a higher prevalence of obesity than the general population. Perhaps this could be another explanation for the findings.”

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