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- Case Report Ectopic ACTH Syndrome with Bilateral Pheochromocytoma in Multiple Endocrine Neoplasia Type 2A.
- Ji Mi Moon, Yoon Jung Kim, Young Jin Seo, Hye Yoon Choi, Joo Hyong Kim, Ju Ri Park, Yun Jeong Lee, Hee Young Kim, Sin Gon Kim, Dong Seop Choi
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Endocrinology and Metabolism 2009;24(4):265-271
DOI: https://doi.org/10.3803/jkes.2009.24.4.265
Published online: December 1, 2009
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Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
Abstract
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN 2A arises due to a germline missense mutation of the RET proto-oncogene. Specific RET mutation analysis has revolutionized the diagnosis and therapy of this disorder, and early thyroidectomy may have lowered the morbidity and mortality associated with these diseases. Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of ACTH outside of the pituitary gland; the most common causes are malignancies, but rarely adrenal pheochromocytoma may be the cause.
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