diseases and syndromes

Question 1

Grave’s disease

Answer 1

• hyperthyroidism
• Autoimmune disease in which antibodies develop against TSH
  receptor (LATS antibodies)
• causes a large goiter/swelling in the neck
• Overstimulation of the growth and activity of the thyroid gland.
• Exopthalamos, or a bulging, of the eyes

Question 2

Addison’s disease

Answer 2

• primary adrenal insufficiency
• Defect in the adrenal cortex - cortisol is not made and there is no feedback
  inhibition
• Levels of ACTH are very high as there is no feedback inhibition from cortisol
• Increased skin pigmentation as a result of increased POMC activity
• reduced gluconeogenesis, which results in hypoglycemia
• All zones in the adrenal cortex may be affected in primary insufficiency
• Reduced aldosterone secretion (glomerular zone) → increased Na+
  and water
  excretion and decreased K
  +
  excretion → low levels of Na+
  in the blood
  (hyponatremia), low blood volume (hypovolemia) and high levels of K
  +
  in the
  blood, or hyperkalemia → hypotension

Question 3

Cushing’s syndrome

Answer 3

• prolonged exposure to cortisol
• Causes: pituitary tumor, adrenal tumor, ectopic tumor (high levels of both cortisol and ACTH; produce ACTH and is not inhibited from feedback)
• moon face, buffalo hump, hirsutism

Question 4

Padget’s disease

Answer 4

• excessive osteoblast activity
• treated with calcitonin

Question 5

Conn’s syndrome

Answer 5

• excess aldosterone
• increased Na+ retention and decreased K+ uptake into renal tubule
• causes hypertension (volume excess)
• causes alkalosis (increased urinary loss of K+)
• tetany, muscular weakness and dysrhythmia

Question 6

Adrenogenital Syndrome

Answer 6

• Biosynthetic pathways that make aldosterone and cortisol are deficient and instead, all
  the precursors enter the pathway that makes DHEA
• caused by excess androgens
• in females, it causes masculinization of genitals
• in males: pseudopuberty

Question 7

Hashimoto’s

Answer 7

• hashimoto’s thyroiditis
• antibodies develop against T3 and T4 hormones
• causes a goiter
• primary thyroid dysfunction

Question 8

Trousseau’s sign

Answer 8

• hypoparathyroidism
• Involuntary contraction of the carpal muscles, due to hypocalcemia and
  tetany

Question 9

Chvotesk’s sign

Answer 9

• hypocalcemia
• Tap the trigeminal nerve which runs along your cheek
• Tetany and a snarl

Question 10

rickets

Answer 10

• vitamin D3 deficiency
• ↓ Vit D, ↓ Ca2+ → poor bone formation
• ↓ Vit D, ↓ Ca2+, ↑ PTH → ↑ bone resorption
• Rickets results in poor bone formation and bone breakdown
• results in secondary hyperparathyroidism (rickets in juveniles, osteolmalacia in adults)