Wilson-Turner X-linked mental retardation syndrome


A condition that is characterised by mental retardation with gynecomastia and obesity.


* Mental retardation * Learning difficulties * Concentration difficulties * Gynecomastia * Obesity


o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family o Hormonal etiology –Hormone replacement for hypothyroidism or growth hormone deficiency –Surgical intervention if hypercortisolism caused by tumor –Decrease exogeneous glucorticoids if not medically contraindicated * Leptin treatment in leptin deficiency (therapeutic trials) * If patient also has type II diabetes mellitus, insulin or oral medications may be required in addition to improved diet and exercise o Pubertal –No treatment if pubertal development and physical exam are normal –Re-evaluation in 6 months * Cessation of drugs when implicated * Testosterone replacement if indicated for hypogonadism * Weight loss for pseudogynecomastia * Surgery (reduction mammoplasty) if severe and psychologically distressing * Persistent pubertal gynecomastia –Therapy is investigational; no large trials completed yet –Antiestrogens (clomiphene and tamoxifen) –Aromastase inhibitors (testolactone)