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KMID : 0356620100250020135
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Journal of Korean Society of Endocrinology
2010 Volume.25 No. 2 p.135 ~ p.141
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A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A
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Lee Yun-Jung
Chon Suk
Lee Sang-Ho
Lee Tae-Won
Ihm Chun-Gyoo
Noh Tae-Jun
Oh Seung-Joon
Woo Jeong-Taek
Kim Sung-Woon
Kim Jin-Woo
Kim Young-Seol
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Abstract
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Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2A. We describe here a rare case of MEN 2A in a patient who presented with an acute catecholamine-induced cardiomyopathy with cardiogenic shock and acute renal failure. The patient was diagnosed with pheochromocytoma and MTC associated with MEN 2A, which was confirmed by the detection of a RET proto-oncogene mutation at exon 11 on codon 634 (Cys634Arg). During familial screening, the patient’s younger sister was found to have a benign thyroid nodule. Re-evaluation of this thyroid nodule revealed MTC with the same gene mutation. We also provide a review of the relevant literature.
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KEYWORD
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Multiple endocrine neoplasia type 2A, RET proto-oncogene, Pheochromocytoma
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