multiple endocrine neoplasia type-2A (MEN-2A); Sipple syndrome
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Introduction
Also see MEN-2.
Pathology
- medullary thyroid carcinoma
- begins in childhood
- tumors > 1 cm in size are frequently associated with local or distant metastases
- most common manifestation
- pheochromocytoma occurs in 50% of patients
- > 50% of patients with unilateral adrenalectomy develop pheochromocytoma in contralateral adrenal
- disproportionate increase in epinephrine relative to norepinephrine
- parathyroid hyperplasia, hyperparathyroidism (20-30%)
- cutaneous lichenoid amyloidosis occurs in one form
Genetics
Laboratory
- pentagastrin-stimulation test
- serum Ca+2, serum albumin, ionized Ca+2
- serum phosphorus
- serum parathyroid hormone
- 24 hour urinary metanephrines
- DNA analysis for RET proto-oncogene mutations
Management
- GLP-1 receptor agonists (incretin mimetics, glutides) are contraindicated in patients with medullary thyroid cancer or MEN2[3]
More general terms
Additional terms
- medullary thyroid carcinoma
- pentagastrin stimulation test (calcitonin-stimulation test)
- pheochromocytoma; paroxysmal hypertension; adrenal medullary paraganglioma; chromoffinoma
- proto-oncogene tyrosine-protein kinase receptor ret; C-ret; (RET, CDHF12)
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 2052-55
- ↑ 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 17, 18. American College of Physicians, Philadelphia 1998, 2006, 2015, 2018.
- ↑ 3.0 3.1 NEJM Knowledge+ Endocrinology
Patient information
multiple endocrine neoplasia type-2A patient information