Congenital Adrenal Hyperplasia

Question 1

hyponatremic hyperkalemic, metabolic acidosis indicates ______

Answer 1

mineralocorticoid deficiency –> adrenal crisis/salt-wasting crisis

Question 2

Tx for salt wasting crisis

Answer 2

iv isotonic saline, dextrose to lower potassium, high dose hydrocortisone to provide vascular support and slow Na loss

Question 3

how does sugar reduce potassium?

Answer 3

induces insulin

Question 4

leading diagnosis of salt-wasting crisis in first weeks of life

Answer 4

21 hydroxylase deficient congenital adrenal hyperplasia

Question 5

CAH

Answer 5

inborn error of cortisol synthesis that result in compensatory high ACTH resulting in adrenal hyperplasia in fetal life and beyond

Question 6

T/F most clinical manifestations of CAH are caused by excess/deficiency of mineralocorticoids and sex hormones vs by glucocorticoids

Answer 6

T –> even though all are made ineffiecient

Question 7

21OH impairment leads to reduced/increased mineralocorticoid production, reduced/increased androgen production, and reduced/increased cortisol production.

Answer 7

reduced, increased, reduced

Question 8

Mineralocorticoid excess/deficiency causes hypertension and hypokalemia

Answer 8

excess

Question 9

Mineralocorticoid excess/deficiency causes saltwasting, hyponatremia, hyperkalemia, dehydration

Answer 9

deficiency

Question 10

T/F effects of mineralocorticoid excess/deficiency are independent of sex.

Answer 10

T

Question 11

Why are there about 20% more adult females than males with CAH?

Answer 11

harder to identify boys b/c testosterone doesn’t result in clinical features –> die from saltwasting without dx of CAH

Question 12

T/F moderate 21OH CAH would result in saltwasting in XY individual

Answer 12

F –> but would cause precocious puberty, overgrowth, early pubic hair