Endocrine function in a patient with asymmetrical acral hypertrophy and giantism: a possible variant of the Kippel-Trenaunay syndrome

Endocrine function was evaluated in a 38-year-old man who had patchy asymmetrical acral hypertrophy and giantism. The history and clinical manifestations were consistent with previously described cases of the Klippel-Trenaunay syndrome. Pituitary and peripheral hormone concentrations were generally elevated, but his endocrine status appeared normal by clinical evaluation. Of particular interest were elevated growth hormone and somatomedin-A concentrations and responses to provocative tests. These findings suggest that this patient had abnormal cell receptor pathophysiology as the cause of the asymmetrical acral hypertrophy and giantism, which often occurred in the same anatomical site.