ped adrenal disorders Flashcards
most common form of adrenal steroid synthesis
deficiency of 21 hydroxylase
most cases of 21 hydroxylase defiency are salt-losing or not?
salt losing
hyponatremia, hyperkalemi, hypoglycemia, FTT
classic 21 hydroxylase deficiency
non-classic CAH (21 hydroxylase deficiecy)
non-salt losing
later presentation, menstrual irregularity, early pubarche, sexual precocity in females
non-classic CAH (21 hydroxylase deficiecy)
HTN, virilization, non-salt losing
11-beta hydroxylase deficiency
non-salt losing, HTN, hypokalemia, ambiuous genitalia in males, no secondary sexual development in females
17 hydroxylase deficiency
what to check in case of 21 hydroxylase defect?
17-hydroxyprogesterone will be elevated
in 21 hydroxylase deficiency, ACTH will be___, renin will be____
elevated; elevated
what is the gold standard for dx of 21 hydroxylase deficiency
consyntopin stimulation test
11 beta hydroxylase defect will have elevated (2)
- 11-deoxycorticosterone
2. 11-deoxycortisol
17 hydroxylase defect will have elevated____, decr___
aldosterone levels , potassium
develops gradually with sx starting b/w age 10-12
addisons disease
most common cause of addisons
autoimmune destruction of adrenal gland
which autoimmune polyglandular syndrome? hypoparathyroidism, chronic mucocutaneous candidiasis, adrenal insufficiency
APS 1
which autoimmune polyglandular syndrome? adrenal insufficiency, hashimotos thyroiditis, type 1 DM
APS 2 (schmidt syndrome)
is APS 1 or 2 more common?
APS 2
how to confirm low cortisol secretion
morning cortisol levels
muscular weakness, dehydration, weight loss, hypotension hyponatreia, hypoglycemia, hyperpigmentation
adrenal insufficiency
in ______there will be no response to cosyntropin test b/c ACTH is already elevated
primary adrenal insufficiency
chronic tx for primary adrenal insufficiency
hydrocortisone and fludrocortisone
if PAI patient under stress, incr hydrocortison dose to ____
3-4x normal
most common cause of cushing syndrome in infants
adrenal tumor
most common cause of cushing syndrome in children
ACTH-secreting pituitary adenoma
1st step in dx of cushings (2 options)
- 24 hr urinary cortisol
2. low dose dexamethasone
test to determine reason for high ACTH
high dose dexamethasone test
pheochromocytoma usu presents during age____
6-14
tumor of the chromaffin cells, MEN 2A and 2B syndromes
pheochromocytoma
von-hippel lindau syndrome assc’d with?
pheochromocytoma
unlike adults, children have______HTN
sustained
tx pheochromocytoma with ____, then _____
phenocybenzamine, then beta blockers
