Medullary carcinoma of the thyroid, multiple phaeochromocytomas, mucosal neuromas, marfanoid habitus and other abnormalities (Sipple's syndrome).
A case of Sipple's syndrome is reported, in which the full phenotype was expressed. The patient had the typical marfanoid habitus, with thickened lips and alae nasi, neuromas on lips and tongue, medullary carcinoma of the thyroid gland, phaeochromocytomas, and medullated corneal nerve fibres. The plasma calcitonin level was initially elevated, rose on calcium infusion before thyroidectomy, and was undetectably after thyroidectomy. The urinary catecholamine excretion was elevated. The plasma parathyroid hormone, adrenocorticotrophin and growth hormone levels and the serum calcium level were normal.
D000328:Adult; D002277:Carcinoma; D005260:Female; D006801:Humans; D009062:Mouth Neoplasms; D009378:Neoplasms, Multiple Primary; D009463:Neuroma; D010673:Pheochromocytoma; D013577:Syndrome; D013964:Thyroid Neoplasms