Is There a Dysregulation of Backdoor Pathway of Androgen Synthesis in Autistic Disorders?

Abstract

Background: Several time associations of androgens and autism were implied. Therefore, we hypothesized that a dysregulation of backdoor pathway during puberty might be one factor affecting dysregulated androgens in autism. Material & Methods: Urine samples were collected from 20 boys originally diagnosed with Asperger syndrome, 21 boys with Kanner syndrome, 8 with Atypical autism as well as 5 girls with Asperger syndrome, 10 girls with Kanner Syndrome and one with Atypical autism and a control group for gas chromatography mass spectrometry based steroid hormone analysis. As Etiocholanolone (E) originates almost exclusively from the classic pathway and Androsterone (A) may be derived additionally from the backdoor pathway analyses of A/E ratios in affected autistic boys and girls were used to identify a potential dysregulation of backdoor pathway of androgen synthesis. Results: In Kanner boys Androsterone and Eticholanolone showed increased concentrations of around fifty percent (p < 0.01). In addition, in boyswith Asperger Syndrome an increase of Androsterone (p < 0.01) and Eticholanolone (p < 0.01) was detected.