Endocrine Abstracts

JOINT2537

Purpose: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social interaction, communication, restricted interests, and repetitive behaviors. ASD is more prevalent in males than females, with some studies suggesting a possible association with prenatal androgen exposure. Congenital Adrenal Hyperplasia (CAH), a genetic disorder causing increased prenatal androgen levels, provides a suitable model to investigate this relationship. This study aims to evaluate the potential link between early androgen exposure and autistic traits by comparing children and adolescents with CAH to healthy controls.

Method: The study included 49 participants: 25 children diagnosed with CAH (13 males, 12 females) followed by Istanbul University-Cerrahpaşa Medical Faculty Pediatric Endocrinology Clinic, and 24 age- and sex-matched healthy controls (12 males, 12 females) aged 2–18 years. Autism symptoms were assessed using the Childhood Autism Rating Scale (CARS), the Autistic Behavior Checklist (ABC), and the Strengths and Difficulties Questionnaire (SDQ).

Results: The total CARS score was significantly higher in the CAH group compared to the control group (P<0.001). The CAH group also had higher scores in the following CARS subtests: Relating to People (P=0.027), Body Use (P=0.031), Visual Response (P=0.017), Listening Response (P=0.028), Taste/Smell (P=0.033), Verbal Communication (P=0.049), Activity Level (P<0.001), and Intellectual Response (P=0.003). However, there was no significant difference between the groups in motor skills, language skills, and general autism scores (P>0.05). When the participants were evaluated with ABC, it was found that the sensory behavior score (P=0.037) was higher, and the relating behavior score (P=0.001) was lower in the CAH group compared to the control group. This finding indicates difficulties in social communication. In the SDQ assessment, emotional problems (P=0.043), behavioral issues (P=0.043), hyperactivity/attention deficit (P=0.025), and peer relationship problems (P=0.001) were significantly higher in the CAH group. The general difficulties score was also higher, indicating an increased psychosocial risk. No correlation was found between current androgen levels (17-OH, DHEA-S, 1,4) and CARS and ABC scores (r < 0.4)

Conclusion: Children diagnosed with CAH had higher scores regarding autism symptoms and had more difficulties with social communication. Additionally, increased behavioral and attention problems were observed in these children, which indicates emotional fragility. No direct correlation between androgen levels and autism symptoms was found, but it is thought that there might be indirect effects of prenatal androgen exposure. Further investigations are needed, with broader samples required to clarify this relationship.