Women with polycystic ovary syndrome more likely to have a child with autism

This is an important piece of new evidence for the theory that autism.


Polycystic ovary syndrome (PCOS) is a condition that affects a woman’s hormone levels. Women with PCOS produce higher-than-normal amounts of male hormones. This hormone imbalance causes them to skip menstrual periods and makes it harder for them to get pregnant.

Almost one out of ten women have PCOS and have elevated levels of the hormone testosterone. Now, a new study by the Cambridge University‘s Autism Research Centre suggests that women with polycystic ovary syndrome (PCOS) are more likely than other women to have an autistic child.

According to previously published work in 2015, before they are born, autistic children have elevated levels of ‘sex steroid’ hormones (including testosterone) which ‘ masculinize’ the baby’s body and brain. And these prenatal sex steroid hormones are the reason for the autism.

But what is the source of these steroid hormones, wondered scientists. One possibility includes, their mother might have higher levels of testosterone than usual and some of the hormones might cross the placenta during pregnancy.

For the study, scientists gathered the data from a large database of GP health records. Almost 8,588 women with PCOS and their first-born children, compared to a group of 41,127 women without PCOS. They discovered that women with PCOS had a 2.3% chance of having an autistic child, compared with the 1.7% chance for mothers without PCOS.

During this discovery, they also considered other factors like maternal mental health problems or complications during pregnancy. Despite that, the study suggests an important clue in understanding one of the multiple causal factors in autism.

Based on the same data, when scientists conducted further studies, they found that the autistic women were more likely to have PCOS, and women with PCOS were more likely to have autism themselves. It means both conditions are linked to each other.

Adriana Cherskov, the Master’s student who analyzed the data, and who is now studying medicine in the US, said: “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.”

Professor Simon Baron-Cohen, Director of the Autism Research Centre, who supervised the research, said: “This new research is helping us understand the effects of testosterone on the developing fetal brain and on the child’s later behavior and mind. These 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.”

Dr. Carrie Allison who co-supervised the research, said: “We need to think about the practical steps we can put in place to support women with PCOS as they go through their pregnancies. The likelihood is statistically significant but nevertheless still small, in that most women with PCOS won’t have a child with autism, but we want to be transparent with this new information.”

Dr Rupert Payne from the University of Bristol Centre for Academic Primary Care, a GP and the expert on the team in using GP health record data for this type of research, said: “Autism can have a significant impact on a person’s wellbeing, and on their parents, and many autistic people have significant health, social care, and educational special needs. This is an important step in trying to understand what causes autism. It is also an excellent example of the value of using anonymous routine healthcare data to answer vital medical research questions.”

Scientists have published their study in the journal Translational Psychiatry.


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