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MEN1 Mneumonic
 - 3 Ps
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MEN1: Pathogenesis
- -autosomal dominant
- -mutations in menin gene (tumor suppressor)
- -loss of fxn leads to hyperplastic growth
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MEN1: Clinical Manifestations
- 1. Parathyroid Hyperplasia
- 2. Pancreas tumors
- 3. Pituitary Adenomas
- 4. Collagenomas (80%)
- 5. Carcinoid Tumors
- 6. Lipomas
- 7. Facial angiofibromas
- 8. Adrenal adenomas
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Hyperparathyroidism
- -usually first manifestation of MEN1
- -100% penetrance by 50
- -usually involves 3-4 glands
- -sx: stones, bones and groans
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Enteropancreatic Tumors
- 1. Gastrinoma (Zollinger Ellison) (40-60%)
- -severe peptic ulcer disease and diarrhea
- 2. Insulinoma (20%)
- -hypoglycemia
- 3. Other (rare)
- -Glucagonoma
- -VIPoma
- -Somatostatinoma
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Pituitary Adenoma
- 1. Prolactinoma (most common)
- -amenorrhea, galactorrhea, hypogonadism
- 2. GH secreting
- -acromegaly
3. Non-functional
- 4. ACTH-secreting
- -Cushing's Disease
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MEN2A Mneumonic
 - 2 P's
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MEN2A: Pathogenesis
- -autosomal dominant
- -mutations in Ret proto-oncogene
- -expressed in neural crest cells (C cells of thyroid, chromaffin cells of adrenal)
- -causes unregulated proliferation
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MEN2A: Clinical Findings
- 1. MCT
- 2. Pheochromocytoma
- 3. Hyperparathyroidism
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Medullary Cancer of the Thyroid
- -malignancy of C cells
- -usually first manifestation of MEN2
- -produces calcitonin (diarrhea, serum marker)
- -tx: total thyroidectomy
-presents earlier and is more aggressive in MEN2B
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Pheochromocytoma
- -tumor of the adrenal medulla
- -secretes catecholamines (Epi, NE, DA)
- -often bilateral, rarely malignant
- Sx: 5Ps
- -Pressure (elevated BP)-Pain (HA)
- -Perspiration
- -Palpitations
- -Pallor
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MEN2B Mneumonic
 - 1 P
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MEN2B: Pathogenesis
- -Mutation in Ret
- -same as MEN2A
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MEN2B: Clinical Findings
- 1. MCT
- 2. Pheochromocytoma
- 3. Oral neuromas
- 4. Marfanoid Habitus
- 5. Bowel ganglioneuromas (constipation and diarrhea)
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APS
-inherited association of multiple autoimmune endocrine disorders due to hypofunction
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APS Type I: Pathophysiology
- -mutation in AIRE --> APECED
- -autoantibodies to multiple endocrine organs
- -autosomal recessive
- -onset at infancy
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APS Type I: Clinical Findings
- Diagnostic Triad
- 1. chronic mucocutaneous candidiasis
- 2. Autoimmune hypoparathyroidism
- 3. Addison's Disease (adrenal insufficiency)
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APS Type II: Pathophysiology
- -familial inheritence, genetic mutation unknown
- -adult age of onset
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APS Type II: Clinical Findings
- Diagnostic Triad (2/3)
- 1. DM1
- 2. Autoimmune thyroid disease (Hashimoto's or Grave's)
- 3. Addison's Disease
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APS: Management
- -hormone replacement for each manifestation
- -longer term F/U for related disorders
- -screening with TSH, autoab panels, electrolytes, CBC, Celiac panel
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