What is the location & characteristic of pheochromocytoma?
- catecholamine secreting tumor in chromaffin cells of adrenal medulla
- 10% extra-adrenal (paragangliomas), bilateral, malignant, NOT associated w/ hypertension
25% familial: neurofibroma type 1, MEN2
What is the classical triad of pheochromocytoma & other symptoms?
Triad: hypertension + headache + sweating
weight loss, Anxiety, palpitations
How is pheochromocytoma diagnosed & treated?
24 hour urinary metanephrines twice
pre-op then laparoscopic surgery : 1. Alpha-blocker (phenoxybenzamine) + beta-blocker (propanol) 2. labetalol (blocks both)
what is Addison’s disease? what are the causes?
- decreased cortisol (glucocorticoid) and aldosterone (mineralocorticoid)
- Autoimmune adrenalitis (destruction to one’s own adrenal cells)
- Malignancy, infectious adrenalitis
When do the symptoms of Addison’s disease start to appear? What are the symptoms?
- 90% destruction of adrenal gland
- Aldosterone: Hyponatremia, hyperkalemia, Hypotension
-cortisol: hypoglycemia - Increased ACTH (stimulated cortisol): hyperpigmentation
- Weight Loss, weakness
How is Addison’s disease diagnosed?
Short synACTHen test: stimulated ACTH, cortisol level only increase a little in addison’s patient
What are the treatment options of Addison’s disease?
- Hydrocortisone (c) + fludrocortisone (a)
- If patient have another disease, ie, infection, double hydrocortisone & fludrocortisone stays the same
What is Cushing’s syndrome and disease, what are the 2 main types? Give some examples
High level of cortisol (disease is specific to pituitary problem causing increased ACTH)
Exogenous: glucocorticoid therapy
Endogenous: pituitary adenoma, adrenal adenoma, ectopic ACTH
What are the symptoms of cushing syndrome? MSK manifestations?
- Central weight gain + abdominal striae
- Buffalo hump, easy bruising, proximal limb muscle wasting
- Osteoporosis, decrease libido, hirsutism in female
What is the diagnosis of Cushing’s syndrome? what test is needed to find the cause?
diagnosed by 24 hr urinary cortisol,
High dose dexamethasone test done to find the cause
ACTH & cortisol both suppressed= pituitary adenoma
ACTH & cortisol both NOT suppressed= ectopic ACTH (SCLC)
Only ACTH suppressed= adrenal adenoma
How is Cushing’s syndrome treated? How is it different for different causes?
Glucocorticoid withdrawal
Surgery: Hypophysectomy, adrenalectomy and/or radiotherapy
Metyrapone: last line OR waiting for radiotherapy
What is the function of parathyroid hormone?
- increase absorption of calcium from diet
- promoting release of calcium from bones, and decreased excretion of calcium by kidneys.
- increase phosphorus excretion by kidneys to balance calcium and phosphorus levels
how is parathyroid hormones stimulated and suppressed?
- Parathyroid gland have chief cells that detect ionized calcium levels in blood, if the level is low, chief cells release PTH
- Thyroid gland release calcitonin which lower calcium in blood and suppress activity of PTH
What are the causes of hyperparathyroidism?
- Primary: Solitary adenoma causing overactive chief cells secreting PTH causing hypercalcemia
- Secondary: hyperplasia from vitamin D deficiency or chronic renal failure leading to decreased calcium absorption, renal resorption, osteoclast activity causing hypocalcaemia, body try to compensate by releasing more PTH leading to hyperplasia of parathyroid gland
- Tertiary: hyperplasia leading to chronic High levels of PTH & hypercalcemia
What are the symptoms and patient profile of hyperparathyroidism?
- Bones, stones, abdominal groans, psychic moans
- Polydipsia, polyuria
- Depression, anorexia
“Elderly female come in very thirsty with normal or raised parathyroid hormones”
What is the investigation for hyperparathyroidism?
- Bloods:increased PTH and calcium in primary & tertiary, increased PTH with low calcium in secondary
- X-ray: osteopenia, pepperpot skull (small spots of lucencies in skull due to resorption of trabecular bone)
What is the treatment for hyperparathyroidism?
- Total parathyroidectomy
- cinacalcet (calcimimetic that activates calcium sensing receptor, used if patient is not suitable for surgery)
- increase vitamin D or kidney transplant (treat underlying cause of hyperplasia)
What are the causes of hypercalcemia?
- Hyperparathyroidism (solitary adenoma)
- Malignancy (squamous cell lung cancer, bone metastases, myeloma )
- Vitamin D, thiazide, lithium
- Sarcoidosis, Familial hypocalciuric hypercalcemia
what are the symptoms of hypercalcemia?
Stones, bones, moans, groans
polydipsia, polyuria
Short QT interval on ECG
if the patient have hypercalcemia what tests should be done to find the cause?
- high PTH: measure urinary Ca+ excretion (high in primary hyperparathyroidism, low in FHH)
- normal PTH: screen malignancy
treatment for hypercalcaemia?
- Rehydration with normal saline
- bisphosphonate or calcitonin or furosemide
- treat underlying cause
What is the cause and treatment for hypoparathyroidism?
- Surgery of the whole thyroid gland causing decreased PTH secretion leading to low calcium and high phosphate
- Treat with alfacalcidol
What is the cause & presentation of pseudoparathyroidism?
- Genetic disorder causing mutation in G-protein receptors responsible of PTH signal transportation to target cells, this leads to PTH resistance, Hypocalcemia, and hyperphosphatemia
- Low IQ, short stature, shortened 4th and 5th metacarpals
What are the causes of hypocalcemia?
- Vitamin D deficiency (osteomalacia/ softening of bones)
- Hypoparathyroidism post thyroid surgery
- chronic kidney disease, Acute pancreatitis
