Tuberous Sclerosis

Abstract
Clinical, endocrine, and metabolic evaluations were performed in seven institutionalized patients with tuberous sclerosis. Several of these patients had evidence of abnormal pituitary adrenal function; two had thyroid disorders; five had abnormal responses to intravenous glucose tolerance tests; and all seven patients had high serum alkaline phosphatase levels. Skeletal surveys disclosed multiple skeletal defects including abnormalities in the size of the sella turcica. These findings indicate that endocrine and metabolic dysfunction is a frequent component of tuberous sclerosis and may be evidenced by a variety of manifestations.