My research goals have been to dissect the clinical, genetic, and neurobiological pathways related to X and Y chromosome disorders including Klinefelter syndrome (47,XXY), XYY syndrome, and Turner syndrome. For the male X-chromosome disorder, Klinefelter syndrome, I successfully initiated and completed a recent NINDS-funded clinical trial investigating the effects of early androgen replacement on motor function, cognition, and brain imaging. The results of this study will provide significant evidence-based recommendations about childhood androgen replacement in boys with testicular failure and prevention of obesity and cardiovascular morbidities in this at risk population. In boys with XYY, we hypothesized that the increased autism risk is related to increased Y chromosome gene copy number and over-expression of Y-linked genes related to brain development and function.
Developmental Endocrinology - National Institutes of Health, 1983
Pediatrics - Children's Hospital of Pittsburgh, 1980
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