ped adrenal disorders

Question 1

most common form of adrenal steroid synthesis

Answer 1

deficiency of 21 hydroxylase

Question 2

most cases of 21 hydroxylase defiency are salt-losing or not?

Answer 2

salt losing

Question 3

hyponatremia, hyperkalemi, hypoglycemia, FTT

Answer 3

classic 21 hydroxylase deficiency

Question 4

non-classic CAH (21 hydroxylase deficiecy)

Answer 4

non-salt losing

Question 5

later presentation, menstrual irregularity, early pubarche, sexual precocity in females

Answer 5

non-classic CAH (21 hydroxylase deficiecy)

Question 6

HTN, virilization, non-salt losing

Answer 6

11-beta hydroxylase deficiency

Question 7

non-salt losing, HTN, hypokalemia, ambiuous genitalia in males, no secondary sexual development in females

Answer 7

17 hydroxylase deficiency

Question 8

what to check in case of 21 hydroxylase defect?

Answer 8

17-hydroxyprogesterone will be elevated

Question 9

in 21 hydroxylase deficiency, ACTH will be___, renin will be____

Answer 9

elevated; elevated

Question 10

what is the gold standard for dx of 21 hydroxylase deficiency

Answer 10

consyntopin stimulation test

Question 11

11 beta hydroxylase defect will have elevated (2)

Answer 11

1. 11-deoxycorticosterone

2. 11-deoxycortisol

Question 12

17 hydroxylase defect will have elevated____, decr___

Answer 12

aldosterone levels , potassium

Question 13

develops gradually with sx starting b/w age 10-12

Answer 13

addisons disease

Question 14

most common cause of addisons

Answer 14

autoimmune destruction of adrenal gland

Question 15

which autoimmune polyglandular syndrome? hypoparathyroidism, chronic mucocutaneous candidiasis, adrenal insufficiency

Answer 15

APS 1

Question 16

which autoimmune polyglandular syndrome? adrenal insufficiency, hashimotos thyroiditis, type 1 DM

Answer 16

APS 2 (schmidt syndrome)

Question 17

is APS 1 or 2 more common?

Answer 17

APS 2

Question 18

how to confirm low cortisol secretion

Answer 18

morning cortisol levels

Question 19

muscular weakness, dehydration, weight loss, hypotension hyponatreia, hypoglycemia, hyperpigmentation

Answer 19

adrenal insufficiency

Question 20

in ______there will be no response to cosyntropin test b/c ACTH is already elevated

Answer 20

primary adrenal insufficiency

Question 21

chronic tx for primary adrenal insufficiency

Answer 21

hydrocortisone and fludrocortisone

Question 22

if PAI patient under stress, incr hydrocortison dose to ____

Answer 22

3-4x normal

Question 23

most common cause of cushing syndrome in infants

Answer 23

adrenal tumor

Question 24

most common cause of cushing syndrome in children

Answer 24

ACTH-secreting pituitary adenoma

Question 25

1st step in dx of cushings (2 options)

Answer 25

1. 24 hr urinary cortisol

2. low dose dexamethasone

Question 26

test to determine reason for high ACTH

Answer 26

high dose dexamethasone test

Question 27

pheochromocytoma usu presents during age____

Answer 27

6-14

Question 28

tumor of the chromaffin cells, MEN 2A and 2B syndromes

Answer 28

pheochromocytoma

Question 29

von-hippel lindau syndrome assc’d with?

Answer 29

pheochromocytoma

Question 30

unlike adults, children have______HTN

Answer 30

sustained

Question 31

tx pheochromocytoma with ____, then _____

Answer 31

phenocybenzamine, then beta blockers