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multiple endocrine neoplasia type-2A (MEN-2A); Sipple syndrome
Also see MEN-2.
Pathology:
1) medullary thyroid carcinoma
a) begins in childhood
b) tumors > 1 cm in size are frequently associated with local or distant metastases
c) most common manifestation
2) pheochromocytoma occurs in 50% of patients
a) > 50% of patients with unilateral adrenalectomy develop pheochromocytoma in contralateral adrenal
b) disproportionate increase in epinephrine relative to norepinephrine
3) parathyroid hyperplasia, hyperparathyroidism (20-30%)
4) cutaneous lichenoid amyloidosis occurs in one form
Genetics:
- associated with defects in RET, exon 11 codon 634 [2]
Laboratory:
1) pentagastrin-stimulation test
2) serum Ca+2, serum albumin, ionized Ca+2
3) serum phosphorus
3) serum parathyroid hormone
4) 24 hour urinary metanephrines
5) 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]
Related
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)
General
multiple endocrine neoplasia type-2 (MEN-2)
Properties
ASSOCIATED-NEOPLASM[S]: pheochromocytoma
parathyroid adenoma
medullary thyroid carcinoma
Database Correlations
OMIM correlations
MORBIDMAP 164761
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY,
1994, pg 2052-55
- Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 17, 18.
American College of Physicians, Philadelphia 1998, 2006, 2015, 2018.
- NEJM Knowledge+ Endocrinology