Adriana Cherskov Autism Research Centre Department of Psychiatry University of Cambridge Cambridge

Testosterone May Be Link Between PCOS and Autism Interview with:

Adriana Cherskov Autism Research Centre Department of Psychiatry University of Cambridge Cambridge

Ms. Cherskov

Adriana Cherskov
Autism Research Centre
Department of Psychiatry
University of Cambridge
Cambridge What is the background for this study? What are the main findings? 

Response: Autism is a condition that affects social interaction, communication, and may be accompanied by unusually narrow interests or difficulties adjusting to unexpected change. Signs of autism are usually present in childhood and the condition affects about 1-2% of the population. At the Autism Research Centre at the University of Cambridge, our research team is interested in understanding some of the environmental triggers of autism. Previously, our research group has shown that autistic children have elevated levels of “sex steroid” hormones (including testosterone) before they are born.

Polycystic ovary syndrome (PCOS) is a relatively common condition, affecting about one in ten women, which is primarily characterized by increased levels of the sex-steroid hormone testosterone and its precursors. These mothers may also have higher testosterone levels than usual during pregnancy, which may exposure their unborn baby to more of this hormone. Additionally, they may have genetic factors increasing sex steroid hormones that can be passed down to their children. Our research team sought to examine whether women with PCOS therefore may have an increased chance of having a child with autism.

We used anonymized health records from a large database of GP records in the UK and included 8,588 women with PCOS and their first-born children in the study as well as 41,127 women without PCOS as controls. We found that after adjusting for factors such as maternal mental health conditions or metabolic conditions, women with PCOS had a 2.3% change of having an autistic child, compared with 1.7% change for mothers without PCOS. We would like to stress, however, that the increased risk for women with PCOS is still very small, and the likelihood of having an autistic child is still very low.

As part of this research, we have also conducted two other studies, where we found that women with PCOS themselves were twice as likely to have autism and that women with autism were also twice as likely to have PCOS. These findings suggest a common pathway between autism and PCOS which will be important to explore in future research. What should readers take away from your report?

Response: As mentioned earlier, our findings indicate women with PCOS have an increased chance of having a child with autism, but this increase is still very small, and the chance of having a child with autism is still very low even in this population (2.3% compared with 1.7%). As a result, the main take-away from our research is that we have found further evidence for the role of prenatal testosterone as one of many players in the development of autism and a potentially common pathway between autism and PCOS. What recommendations do you have for future research as a result of this work?

Response: This link will help us in the future to understand the cause of both conditions. In this study we were not able to measure testosterone or sex steroid levels in women or their children, and this will be an important step in determining whether it is the sex-steroid hormones themselves, another downstream factor (such as insulin levels which are affected in PCOS), or genetics at the root of this association. Ultimately, both autism and PCOS are very complex conditions with many causative factors. The association we find here is likely just one of these players for both conditions, but it paves the path for future research.

In the future, this research may also help doctors and patients make decisions about treatment, as women with autism at high risk of developing PCOS may be able to start treatment or lifestyle changes early, which can improve PCOS management and quality of life. Alternatively, we underline again that the small increased likelihood of women with PCOS having a child with autism should not cause additional stress or worry in this population, since there are many factors involved in developing autism which will require further research to understand fully. 

Citation: Adriana Cherskov, Alexa Pohl, Carrie Allison, Heping Zhang, Rupert A. Payne, Simon Baron-Cohen. Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory. Translational Psychiatry, 2018; 8 (1) DOI: 10.1038/s41398-018-0186-7

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Last Updated on August 5, 2018 by Marie Benz MD FAAD