Endocrinol Metab > Volume 25(2); 2010 > Article
Endocrinology and Metabolism 2010;25(2):135-141.
DOI: https://doi.org/10.3803/EnM.2010.25.2.135    Published online June 1, 2010.
A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A.
Yun Jung Lee, Suk Chon, Sang Ho Lee, Tae Won Lee, Chun Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong Taek Woo, Sung Woon Kim, Jin Woo Kim, Young Seol Kim
1Department of Endocrinology and Metabolism, Kyung Hee University School of Medicine, Seoul, Korea. jtwoomd@khmc.or.kr
2Endocrine Research Institute, Kyung Hee University School of Medicine, Seoul, Korea.
3Department of Nephrology, Kyung Hee University School of Medicine, Seoul, Korea.
4Department of Internal Medicine, Dong Su Won General Hospital, Suwon, Korea.
Abstract
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.
Key Words: Multiple endocrine neoplasia type 2A, RET proto-oncogene, Pheochromocytoma


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