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multiple endocrine neoplasia type-1 (MEN-1); multiple endocrine adenomatosis; Wermer Syndrome

Distinguish from WerNer's syndrome. Pathology: 1) multiple tumors of the: a) anterior pituitary b) parathyroid glands c) pancreatic islet cell tumors (3 P's) [4] 2) more than 1/2 have adenomas in 2 different endocrine glands 3) hyperfunction of the adrenals & thyroid may occur 4) adrenal cortical adenoma [5] 5) hyperparathyroidism most often as result of parathyroid hyperplasia rather than parathyroid adenoma [4] 6) pancreatic neuroendocrine tumors a) carcinoid [4] b) gastrinoma c) insulinoma d) vasoactive intestinal polypeptide-secreting neoplasm e) high incidence of peptic ulcer, gastrinoma [4] 7) malignant schwannoma [3] Genetics: 1) autosomal dominant trait 2) 100% penetrance 3) associated with mutations in menin gene on chromosome 11q13 4) expression may require mutation of normal allele - inheritance of 1 mutated allele with somatic mutation in the other allele [4] Clinical manifestations: 1) endocrine hyperfunction: a) parathyroid 90-95% - hyperparathyroidism is the most common manifestation b) islet cell 30-35% - insulinoma - Zollinger-Ellison syndrome (gastrinoma) c) anterior pituitary 15-20% - prolactinoma: amenorrhea, erectile dysfunction, impotence - growth hormone secreting: acromegaly - ACTH-secreting: Cushing's syndrome d) adrenal cortex 15% e) thyroid <15% f) carcinoid tumors (foregut) 2) other clinical features: - presentation usually middle age - cutaneous lipomas 20% - nephrolithiasis - diarrhea [4] - hypokalemia [4] Laboratory: 1) serum Ca+2 (ionized Ca+2 or serum albumin adjusted) 2) intact PTH in serum 3) serum prolactin 4) basic metabolic panel a) serum glucose & labs for hypoglycemia if low for insulinoma b) serum potassium 5) genetic testing 6) see ARUP consult [7] Radiology: - CT or MRI localization of islet cell neoplasias - MRI of sella turcica for pituitary adenoma [4] Management: 1) hyperparathyroidism a) removal of 3.5 parathyroid glands b) total parathyroidectomy with transplantation of parathyroid tissue into arm c) rate of recurrence of hyperparathyroidism is high 2) screen family members who have at least one component of MEN1, generally hypoparathyroidism, for pituitary adenoma [4]

Related

Werner syndrome

General

multiple endocrine neoplasia (MEN)

Properties

ASSOCIATED-NEOPLASM[S]: carcinoid :SITE bronchus duodenum thymus carcinoma :SITE bronchus islet cell tumor parathyroid adenoma pituitary adenoma prolactinoma adrenal cortical adenoma malignant nerve sheath tumor lipoma

Database Correlations

OMIM 131100

References

  1. Cecil Textbook of Medicine, Wyngaarden & Smith eds, WB Saunders, Philadelphia, 1985, 1405-6
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 269-70
  3. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2399
  4. Medical Knowledge Self Assessment Program (MKSAP) 14, 16, 17, 18. American College of Physicians, Philadelphia 2006, 2012, 2015, 2018. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  5. Brandi ML, Gagel RF, Angeli A, Bilezikian JP Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001 Dec;86(12):5658-71. PMID: 11739416
  6. Thakker RV, Newey PJ, Walls GV et al Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011. Review. PMID: 22723327
  7. ARUP Consult: Multiple Endocrine Neoplasia Type 1 https://arupconsult.com/ati/multiple-endocrine-neoplasia-type-1
  8. NIDDK: Familial Multiple Endocrine Neoplasia Type 1 http://www.niddk.nih.gov/health/endo/pubs/fmen1/fmen1.htm