Background: Autism Spectrum Disorder (ASD) is usually detected in young children experiencing atypical development in the areas of communication, behavior, and social interaction. ASD is four times more common in boys than in girls. Researchers have long suspected that sex-related genetic factors may play a role in this disorder.

What’s new: On June 3, 2014, the journal Molecular Psychiatry published a study evaluating a possible link between ASD and the precursors to the male sex hormone testosterone in the amniotic fluid surrounding a developing fetus. The researchers analyzed amniotic fluid from mothers of boys born between 1993 and 1999 in a Danish cohort. In the samples from the 128 boys who later received an ASD diagnosis, the researchers found higher levels of male hormones–as well as a protein known to control hormone activity–than in the samples from the 217 controls.

Why it’s important: Using more than 19,000 amniotic fluid samples, scientists have shown a provocative link betweenelevated levels of steroid hormone and exposure in the womb to later development of ASD. However, further research is needed using different population samples to establish this link for any future clinical application.

Genetics

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