Rare medical conditions affecting foetal testosterone project

Whereas one of our projects is measuring fetal testosterone and other sex steroids in amniotic fluid, via amniocentesis, in a longitudinal follow-up design, this project is testing for associations between fetal testosterone levels and number of autistic traits using carefully selected medical conditions in which fetal sex steroid levels are abnormally high or low. Examples include Congenital Adrenal Hyperplasia (CAH) who for genetic reasons have over-production of foetal testosterone; and Androgen Insensitivity Syndrome (AIS) who for genetic reasons have some or all of their androgen receptors missing, so cannot bind the testosterone they produce. We found that girls with CAH are masculinized in terms of their AQ (Autism Spectrum Quotient) score, relative to their unaffected sisters. We are predicting that males with AIS will be feminized in terms of their AQ score, and this study is underway. We have also studied genetic females who have had a sex change (female-to-male transsexuals) because they have masculinized 2D:4D ratios, taken as a proxy for elevated fetal testosterone levels.


Selected References

490: R. Jones, S. Wheelwright, K. Farrell, E. Martin, R. Green, D .Di Ceglie, S. Baron-Cohen (2012)
Brief Report: Female-To-Male Transsexual People and Autistic Traits
Journal of Autism and Developmental Disorders 42:301-306

507: S. Baron-Cohen, M. Lombardo, B Auyeung, E. Ashwin, B. Chakrabarti, R. Knickmeyer (2011)
Why Are Autism Spectrum Conditions More Prevalent in Males?
PLoS Biology 9(6):e1001081

375: E. Ingudomnukul, S. Baron-Cohen, S. Wheelwright and R. Knickmeyer (2007)
Elevated rates of testosterone-related disorders in women with autism spectrum conditions
Hormones and Behavior 51:597-604

343: R. Knickmeyer, S. Baron-Cohen, B. A. Fane, S. Wheelwright, G. A. Mathews, G. S. Conway, C. G. Brook and M. Hines (2006)
Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia
Hormones and Behavior 50:148-153

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