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Elevated fetal steroidogenic activity in autism.

S Baron-Cohen1, B Auyeung2, B Nørgaard-Pedersen3

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Elevated fetal steroid hormone activity is linked to autism risk in males. This study found higher levels of multiple steroid hormones in amniotic fluid of males later diagnosed with autism spectrum disorder.

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Area of Science:

  • Neuroendocrinology
  • Developmental Biology
  • Psychiatry

Background:

  • Autism spectrum disorder (ASD) affects males more frequently than females.
  • Steroid hormones are implicated in early fetal brain development, potentially influencing ASD risk.
  • Previous research suggests a link between prenatal hormone exposure and neurodevelopmental outcomes.

Purpose of the Study:

  • To investigate the association between prenatal exposure to specific steroid hormones and the later development of autism.
  • To determine if elevated fetal steroidogenic activity is a biological risk factor for autism in males.

Main Methods:

  • Utilized amniotic fluid samples from the Danish Historic Birth Cohort (1993-1999).
  • Measured concentrations of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione, testosterone) and cortisol using liquid chromatography tandem mass spectrometry.
  • Compared hormone levels in males diagnosed with autism, Asperger syndrome, or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) against matched controls.

Main Results:

  • A positive association was observed among all measured hormones, indicating a generalized steroidogenic factor.
  • Males later diagnosed with autism exhibited significantly elevated levels of hormones related to this generalized steroidogenic factor (Cohen's d=0.37, P=0.0009).
  • This elevation was consistent across different autism spectrum disorder diagnostic labels.

Conclusions:

  • Provides the first direct evidence of increased fetal steroidogenic activity in individuals with autism.
  • Prenatal elevations in steroid hormones may act as an epigenetic programming mechanism in fetal development.
  • These hormonal changes could interact with other factors contributing to autism pathophysiology.