Autism Spectrum Disorder-associated Biomarkers for Case Evaluation and Management by Clinical Geneticists

David A. Geier; Mark R. Geier


Expert Rev Mol Diagn. 2008;8(6):671-674. 

In This Article

Hormonal Biomarkers

The ratio of ASD cases between the sexes, with four boys diagnosed for every one girl, probably reflects a male vulnerability to developing ASDs; a hypothesis supported by multiple lines of evidence. Investigators reported that ASDs tend to display a hypermasculine profile on many cognitive tasks. Others have observed that ASDs also have lower-than-expected 2nd to 4th digit (2D:4D) ratios, which is correlated with higher ratios of fetal testosterone to fetal estrogen, as well as with lower verbal and higher numerical intelligence. Some neuroanatomical studies, comparing the brains of individuals with and without an ASD, reveal structural differences associated with high levels of fetal testosterone, including hemispheric asymmetries.[35] Interestingly, girls with abnormally high fetal testosterone levels, as a result of congenital adrenal hyperplasia, have a higher number of autistic traits than their unaffected sisters.[36] ASD girls were observed to have significantly delayed onset of menarche[37] (excess androgens have been linked to menstrual problems) and are more likely to display elevated rates of testosterone-related disorders in comparison with controls.[38] Other studies have shown elevated blood androgen metabolites in ASDs, in comparison with controls.[22,39] In addition, recent studies have helped to explain the biochemical basis for these increased androgen levels in ASDs.[39]

Androgen biomarkers available from LabCorp include testicular function profile II (Test#035113), dehydroepiandrosterone (Test#004101), dehydroepiandrosterone-sulfate (Test#004697), androstenedione (Test#004705), androstane diol glucuronide (Test#140442), dihydrotestosterone (Test#500142), estradiol (Test#140244), estrone (Test#004564) and total estrogens (Test#004549) testing. Interventions for increased androgens in ASDs include drugs with known anti-androgen effects, such as Lupron® (leuprolide acetate), Androcur® (cyproterone acetate), and Aldactone® (spironolactone). These drugs were observed to result in significant clinical ameliorations in hyperactivity and/or impulsivity, stereotypy, aggression, self-injury, abnormal sexual behaviors and/or irritability behaviors that frequently occur in those with an ASD diagnosis.[19,34,39] Menstrual-aged females with ASDs may benefit from increased estrogen levels from Yaz® (drospirenone/ethinyl estradiol).


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