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Material submitted for publication in the Journal of Endocrinology, Metabolism and Diabetes of South Africa (JEMDSA) is accepted provided it has not been published elsewhere. JEMDSA reserves copyright of the material published. Neither JEMDSA nor the Publisher may be held responsible for statements made by the authors.
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Case Report: Multiple endocrine neoplasia type 2A
Abstract
Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome consisting of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism. A germline mutation in the RET proto-oncogene which codes for tyrosine kinase receptors expressed in neural-crest derived cells of the thyroid, the parathyroid, adrenal medulla and enteric autonomic plexus results in this syndrome. Genetic
testing for mutations in the RET proto-oncogene should now be the standard of care for the diagnosis and screening of families with MEN-2A. This report describes a 34-year-old Congolese man with newly diagnosed MEN-2A.
JEMDSA Vol. 13 (1) 2008: pp. 18-19
