Endocrine

Question 1

presentation of congenital hypothyroidism?

Answer 1

• coarse facies
• lethargy
• dry skin
• hoarse cry
• hypothermia
• hypotonia
• FTT
• polonged jaundice

Question 2

diagnosis of Congenital hypothyroidism?

Answer 2

picked up on Guthrie screen

Question 3

Rx of congenital hypothyroidism

Answer 3

lifelong levothyroxine

Question 4

pathology of congenital adrenal hyperplasia

Answer 4

• autosomal recessive disorder resulting in 21-hydroxylase deficiency
  
  • underproduction of cortisol & aldosterone
  • overpoduction of androgens

Question 5

presentation of CAH?

Answer 5

• FTT
• severe cases, at birth:
  
  • females- ambiguous genitalia & enlarged clitoris

Question 6

presentation of CAH in mild cases

Answer 6

during childhood / after puberty with symptoms of high androgen levels

females: tall for age/facial hair/absent periods
males: tall for age/deep voice/large penis

Question 7

Ix of CAH

Answer 7

hyponatraemia, hyperkalaemia, hypogylcaemia

Question 8

Mx of CAH

Answer 8

• hydrocortisone
• fludrocortisone