Steroidopathies and hormonal imbalance in children and adolescents with autism spectrum disorder

Abstract Background Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a multifactorial etiology, many aspects of which remain unclear. Emerging evidence suggests a potential association between ASD and clinical manifestations resulting from hormonal imbalances, henceforth named “steroidopathies.” The present study aims to investigate the association between ASD, steroidopathies and altered steroid hormone levels. Methods A cohort of 100 individuals aged 9–18 years was examined, comprising 50 autistic individuals (25 males, 25 females) compared to 50 individuals diagnosed with other neuropsychiatric disorders (20 males, 30 females). Data were collected on steroidopathies (including hirsutism, severe acne, irregular menstrual cycles, polycystic ovary syndrome, endometriosis, pubertal disorders) in participants and their first‐degree relatives, as well as on maternal pregnancy and delivery complications. Blood samples were analyzed to assess hormonal profiles, including testosterone, estradiol, and vitamin D levels. A multivariate logistic regression analysis was conducted, with ASD status as the dependent variable and hormone levels, steroidopathies and other pregnancy‐related conditions as independent variables. Sex and age were included as covariates. Results The results indicate a higher prevalence of steroidopathies among relatives of individuals with ASD compared to those with other neuropsychiatric disorders, with statistically significant differences in the frequency of thyroid pathologies (OR = 2.66, 95% CI: 1.05–6.76, p = 0.0394) and a borderline effect for maternal hormonal treatment during pregnancy (OR = 3.17, 95% CI: 0.99–10.08, p = 0.0501). Serum testosterone levels were significantly higher in autistic individuals compared to controls (median 0.50 vs. 0.275 ng/mL, p = 0.0057). Conclusion These findings support the hypothesis of an association between steroidopathies and altered steroid hormone levels with ASD, suggesting that steroid hormone profiles could potentially serve as early biomarkers in future research. Furthermore, consideration of maternal endocrine health and prenatal exposures may contribute to a better understanding of ASD risk.