Sipple Syndrome (Multiple Endocrine Neoplasia 2 or 2A;
Multiple Endocrine Adenomatosis 2
or 2A; Familial Chromaffinomatosis; Multiple Neuroma; Pheochromocytoma-Thyroid
Medullary Carcinoma; PCT; MEN2 or MEN 929f54j 2A; MEA2 or MEA2A)
General: Autosomal dominant; sporadic types have been described; both sexes affected; genetic mapping has assigned the genes responsible for these tumors to the pericentromeric region of chromosome 10.
Ocular: Prominent corneal nerves (rare).
Clinical: Association of medullary thyroid carcinoma and pheochromocytoma; parathyroid tumors; neurofibromas; diabetes mellitus; diarrhea.
Ledger GA, et al. Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med 1995; 122:118-l24.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes. 2nd ed. Philadelphia: JB Lippincott, 1981.
Sipple JH. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 1961; 31: 163-l66.
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