ESPE Abstracts (2019) 92 P2-258

Study of Autistic Features Among Children and Adolescents with Congenital Adrenal Hyperplasia

Shaymaa Elsayed1, Tarek Omar2, Magdy El Bardeny 3, Soha Abd El-Latif 4, Sandra Ibrahim5


1Pediatric Endocrinology and Diabetology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt. 2Pediatric Neurology and Psychiatry Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt. 3Clinical and Chemical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt. 4Neuropsychiatry Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt. 5Pediatric Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt


Introduction: Autism spectrum disorder (ASD) consists of a pattern of persistent deficits in social communication and interaction across multiple contexts together with restricted, repetitive patterns of behavior, interests or activities. In the general population autistic traits can be found more frequently in males than females. This male predominance indicates that high androgen levels may prenatally have influence on development of autistic traits.

The 'extreme male brain' theory (EMB) states that exposure to high androgen levels during the critical window of fetal development gives rise to behavioral changes contributing to ASD.

Congenital Adrenal Hyperplasia (CAH) is an ideal way to study the influence of androgens on behavior in children after exposure to high testosterone levels in fetal development.

Aim of the work: To study the occurrence of autistic features among children and adolescents diagnosed with CAH and to assess the relationship between levels of serum Testosterone and autistic features found among them.

Subjects and Methods: This study included 51 children and adolescents with CAH attending the endocrinology clinic in Alexandria University Children's Hospital, Egypt. Thorough history taking and clinical examination were done with emphasis on behavioral abnormalities pointing towards presence of autistic traits according to DSM-5 criteria. Severity rating scale for the ASD using CARS-2 scale was done. Total serum testosterone was measured.

Results: There were 36 females (70.6 %) and 15 males (29.4%). The mean age of the cases was 7.3 years; they had CAH with mean duration of 6.7 years. There were 4 cases (7.8%) still had elevated levels of serum Testosterone. According to CARS-2, 6 children (11.8%) showed mild autistic disorder, however all children were normal by DSM-5. Those children with mild autistic features were 3 males and 3 females, and only one of them still had elevated serum Testosterone.

Conclusion: Children with CAH may have more risk for autistic features so they have to be screened if they showed clinical suspicious behaviour.

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