0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16
Multiple Endocrine Neoplasia 1 1009■Pituitary adenoma, prolactinoma most common
■Other tumors: carcinoid, adrenocortical, lipoma
■Autosomal dominant inheritance; high penetrance but with different
constellation of tumors among family members; mutation inMEN1
gene
Signs & Symptoms
■Mostly due to hormone hypersecretion
■Hyperparathyroidism: usually no signs
■Islet cell tumor:
➣Gastrinoma: peptic ulcer symptoms, diarrhea
➣nsulinoma: hypoglycemic symptoms
➣Glucagonoma: hyperglycemia, necrolytic migratory erythema
➣VIPoma: watery diarrhea syndrome
■Pituitary: hypogonadism, amenorrhea, galactorrhea (prolacti-
noma), acromegaly, Cushing syndrome; visual field cuttests
Laboratory
■Blood tests: random and dynamic: directed by symptom complex
➣Elevated calcium and PTH levels
➣Elevated gastrin (>300 pg/mL): may require secretin/calcium test
➣Hyperinsulinemic hypoglycemia (may require 72-h fast)
■Anterior pituitary axis testing: random prolactin, dexamethasone
suppression (Cushing disease), growth hormone (after glucose load),
IGF-1
Imaging
■Parathyoid: sestimibi radionuclide scan useful; US, MRI, CT adjunc-
tive
■Pancreas: MRI or CT may be useful;^111 In-octreotide scan may detect
lesions with (−) MRI or CT findings; intraoperative US increases
detection
■Pituitary: MRI
Screening
■Family members: if mutation is known, screen all at-risk family mem-
bers
■Complete physical and biochemical testing (calcium, gastrin, pro-
lactin) q 3–5 y
■Pituitary and abdominal imaging at baseline and q 5–10 y if hyper-
parathryoid, depending on symptoms and biochemistry; if no hyper-
parathyroidism by age 40 y, no need to do routine screening