Endocrinology: Multiple Endocrine Neoplasia

Endocrinology: Multiple Endocrine Neoplasia 2018-01-30T16:36:20+08:00
  • Autosomal dominant
  • MEN-1
    • Pituitary adenoma
      • Visual field defects
      • Headaches
      • Diplopia (oculomotor nerve compression from lateral extension of adenoma)
      • Hormone deficiencies from compression of non-functioning adenomas
        • Decreased libido / fertility (hypogonadotropic hypogonadism)
        • Cold intolerance, lethargy (hypothyroidism)
        • Lethargy, postural dizziness (hypoadrenalism)
        • Galactorrhoea (excess prolactin)
      • Hormone excess (functioning pituitary adenoma)
        • Acromegaly
        • Cushing’s disease
        • Galactorrhoea, amenorrhoea, erectile dysfunction (prolactinoma)
        • Thyrotroph, gonadotroph adenomas are very rare
    • Parathyroid adenoma (hypercalcaemia)
      • Polydipsia
      • Polyuria
      • Constipation
      • Renal colic from renal stones
      • Depression
    • Pancreatic neoplasm
      • Peptic ulcer disease (Zollinger-Ellison syndrome)
      • Diarrhoea (VIPoma)
      • Recurrent hypoglycaemia (insulinoma)
  • MEN -2
    • Autosomal dominant
    • Medullary thyroid carcinoma
      • Solitary thyroid nodule
      • Cervical lymphadenopathy
      • May cause ectopic ACTH secretion
      • Thyroid function tests are normal in patients with MTC
    • Phaeochromocytoma
      • Headaches
      • Sweating
      • Palpitations
      • Hypertension
    • MEN-2a: parathyroid adenoma
    • MEN-2b: Marfanoid habitus

Investigations and management

  • Anterior pituitary hormone screen
    • Cortisol (first), thyroxine (second), testosterone replacement if depressed
  • Magnetic resonance imaging of the brain looking for pituitary adenoma
    • Trans-sphenoidal resection of the pituitary
  • Serum calcium and PTH measurement
    • Parathyroidectomy
  • Radioiodine uptake scan – cold nodule in MTC, fine-needle aspiration
    • Thyroidectomy
  • Phaeochromocytoma: serum metanephrines, 24hr urinary metanephrines
    • α blockade (phenoxybenzamine) → β blockade, then definitive surgery

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