ATI RN
Endocrine System in Pediatrics Questions
Question 1 of 5
A 2-month-old male of French Canadian heritage presents with fever, irritability, vomiting, and jaundice. Physical examination reveals an obtunded infant with hepatomegaly and jaundice. Laboratory studies reveal a blood glucose level of 10 mg/dL and elevated liver transaminases. The most likely diagnosis is
Correct Answer: A
Rationale: Tyrosinemia type I, prevalent in French Canadians, causes hypoglycemia, hepatomegaly, and liver dysfunction.
Question 2 of 5
Treatment is initiated with high-dose vitamin B6 but no response is observed. The most likely explanation is
Correct Answer: A
Rationale: Non-responsive homocystinuria (CBS deficiency) often indicates folate deficiency, as folate is needed for methionine remethylation.
Question 3 of 5
Matching: Juvenile multiple carboxylase deficiency
Correct Answer: B
Rationale: Juvenile MCD (biotinidase deficiency) features seborrheic dermatitis and neurologic symptoms.
Question 4 of 5
Deficiency of trimethylamine oxidase results in what symptoms?
Correct Answer: B
Rationale: Trimethylaminuria (due to FMO3 deficiency) causes a fishy odor from trimethylamine accumulation.
Question 5 of 5
A 14-month-old male of Northern European ancestry experienced an upper respiratory tract infection and anorexia. On the second day of the illness, he began to vomit, and by that evening he was unresponsive. On the way to the hospital, he had a generalized seizure lasting 10 minutes. At the hospital, he had a blood glucose of 10 mg/dL; his urinalysis showed no ketones. Liver function tests, anion gap, and serum ammonia were all normal. The most likely diagnosis is
Correct Answer: A
Rationale: MCAD deficiency causes hypoketotic hypoglycemia during fasting/stress, common in Northern Europeans.