Adrenal disorders in infants and children Flashcards
most cases of congenital adrenal hyperplasia are due to what enzyme deficiency?
21 hydroxylase
features of 11 beta hydroxylase deficiency
- hypertension (mineralocorticoid activity through 11-deoxycorticosterone)
- virilization in all patients
- non-salt wasting
features of 17 hydroxylase deficiency
- non-salt losing
- HTN
- hypokalemia (excess aldosterone production)
- males will have ambiguous genitalia
- females lack secondary sexual development
what are the biochemical findings in an 11 beta hydroxylase defect?
- elevated 11-deoxycorticosterone
- elevated 11-deoxycortisol
what are the biochemical findings in a 17 hydroxylase defect?
- hypokalemia
- elevated aldosterone levels
what is the most common etiology of addisons disease in children?
autoimmune
what is APS 1?
autoimmune polyglandular syndrome type 1
- hypothyroidism
- chronic mucocutaneous candidiasis
- adrenal insufficiency
what is APS 2?
autoimmune polyglandular syndrome type 2 (Schmidt syndrome)
- adrenal insufficiency
- thyroiditis
- type 1 diabetes
what is the most common cause of cushing sydrome in infants?
adrenal tumor
what is the most common cause of cushing syndrome in children?
ACTH secreting pituitary adenoma
what is the classic triad of symptoms in pheochromocytoma?
headache
sweating
tachycardia
what is the first step in diagnosis for pheochromocytoma?
24 urinary fractionated metanephrines and catecholamines
if 24 urinary fractionated metanephrines and catecholamines is positive for pheochromocytoma, what should be done next?
CT or MRI of abdomen and pelvis
if CT or MRI of abdomen and pelvis is negative for pheochromocytoma, what is done next?
metaiodobenzylguanidine (MIBG) screening
