Women with polycystic ovary syndrome (PCOS) and their children have an increased risk for autism, according to research published in Translational Psychiatry. Because PCOS is associated with elevated prenatal testosterone, the prenatal sex steroid theory hypothesizes that women with PCOS would have heightened autistic traits and an increased rate of autism among their children.
Researchers gathered data from electronic health records from the Clinical Practice Research Datalink in the United Kingdom between 1990 and 2014 and conducted 3 matched case-control studies.
The first study assessed the risk for PCOS among 971 women with autism; the second study assessed the risk for autism among 26,263 women with PCOS; and the third study examined the odds ratio of autism in first-born children among 8588 women with PCOS matched with 41,127 controls.
The first study found an increased prevalence of PCOS in women with autism (2.3% vs 1.1%). The second study found heightened rates of autism in women with PCOS (0.17% vs 0.09%). The third study found significantly increased odds of women with PCOS having a child with autism, even after adjustment for maternal psychiatric diagnoses, obstetric complications, and maternal metabolic conditions (odds ratio, 1.35; 95% CI, 1.06-1.73).
According to researchers, the strong association between PCOS and autism “raises the question of whether early treatments or surveillance might be considered for one condition given the presence of the other.” Researchers also noted that this association may inform new clinical interventions for both PCOS and autism.
The limitations of the studies include a possible underestimation of the rate of children with autism because only first-born children were included. The study did not control for marital status, alcohol use, specific hormone or infertility treatments, and socioeconomic background. Mother-baby link lacked data regarding potential paternal influence and may have introduced a bias toward early diagnosis.
Cherskov A, Pohl A, Allison C, Zhang H, Payne RA, Baron-Cohen S. Polycystic ovary syndrome and autism: a test of the prenatal sex steroid theory. Transl Psychiatry. 2018;8:136.