ATI RN
Endocrine System in Pediatrics Questions
Question 1 of 5
Matching: Sensorineural deafness
Correct Answer: C
Rationale: Waardenburg syndrome features sensorineural deafness and pigmentation defects.
Question 2 of 5
Matching: Juvenile multiple carboxylase deficiency
Correct Answer: B
Rationale: Juvenile MCD (biotinidase deficiency) features seborrheic dermatitis and neurologic symptoms.
Question 3 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 4 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.
Question 5 of 5
Matching: Most severe
Correct Answer: D
Rationale: Zellweger syndrome is the most severe peroxisomal disorder.