Diseases · 2020 · 19 citations · 53 references
Life SciencesBiochemistryEndocrinologyAutism Spectrum DisordersNeuroendocrinologySteroid BiochemistryAdrenal Steroid HormonesAndrogen PhysiologySteroid BiosynthesisSteroid Hormone BiochemistrySteroid MetabolismSteroid Metabolism DisordersAdrenal AndrogensAdrenal Steroid ProfilingAndrogen Biosynthesis RegulationSex Steroid BiosynthesisSex Steroid PhysiologySteroid Metabolite Profiling
Evidence of altered cholesterol and steroid hormones in autism is increasing. However, as boys are more often affected, evidence mainly relates to autistic males, whereas evidence for affected autistic girls is sparse. Therefore, a comprehensive gas chromatography mass spectrometry-based steroid hormone metabolite analysis was conducted from autistic girls. Results show increased levels of several steroid hormones, especially in the class of androgens in autistic girls such as testosterone or androstenediol. The increase of the majority of steroid hormones in autistic girls is probably best explained multifactorially by a higher substrate provision in line with the previously developed cholesterol hypothesis of autism.
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O’Roak, Laura Vives, Santhosh Girirajan et al. · Nature · 2012 · 2.2K citations · Full text
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale, Yan Kou, Li Liu et al. · Nature · 2012 · 1.8K citations · Full text