Endocrine / Metabolic Flashcards
1
Q
Hypoglycemia, omphalocele and hemihypertrophy
A
Beckwith-Widemann Syndrome
2
Q
Blood test to confirm congenital adrenal hyperplasia (21-hydroxylase deficiency)
A
17-hydroxyprogesterone
3
Q
Delayed fontanelle closure
A
Think congenital hypothyroidism
4
Q
Hyperammonemia with acidosis
A
Think organic acidemias
5
Q
Hyperammonemia with alkalosis
A
Think urea cycle disorders
6
Q
Positive urine reducing substances
A
Think galactosemia
7
Q
Organism causing sepsis in neonate with galactosemia
A
Escherichia coli
8
Q
Hypoglycemia without ketones
A
Hyperinsulinism versus fatty acid oxidation disorder
9
Q
A patient on long-term prednisone: what treatment to consider?
A
Hydrocortisone for adrenal insufficiency
