Barbara Geller, MD

Early steroidogenic activity is found in banked amniocentesis samples.

The search for fetal origins of autism spectrum disorder (ASD) has been fueled by clinical studies showing autistic behaviors in infants (NEJM JW Psychiatry Nov 13 2013). These researchers analyzed cortisol and four hormones in the Δ4 sex steroid pathway (progesterone, 17α-hydroxy-progesterone, androstenedione, and testosterone) in stored amniotic fluid from all 19,677 births between 1993 and 1999 in the Danish Historic Birth Cohort. The national psychiatric database was used to match cases with ASDs to typically developing controls.

Prevalence of ASD in the total sample (0.8%) was similar to that in the Danish population. Analyses included only males because few females had autism and females with ASD had significantly older fathers than controls (final population: males with ASD, 128; controls, 217). The ASD group had significantly higher mean levels of the five hormones. In a principal components analysis, all hormones loaded on a factor that accounted for 49% of the variance.

Citation(s):

Baron-Cohen S et al. Elevated fetal steroidogenic activity in autism. Mol Psychiatry 2014 Jun 3; [e-pub ahead of print].