ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
A previously healthy 4-month-old now manifests increasing hypotonia and poor feeding. Physical examination reveals macroglossia, a gallop rhythm and tachycardia, marked flaccidity, but normal mental status. Laboratory studies reveal a blood glucose level of 85 mg/dL and sinus tachycardia with a shortened PR interval on an electrocardiogram. The most helpful diagnostic study would be
Correct Answer: C
Rationale: Pompe disease (glycogen storage disease type II) matches these symptoms (cardiomyopathy, hypotonia, macroglossia); muscle biopsy confirms glycogen accumulation.
Question 2 of 5
The glycoproteinoses are a class of disorders that result from the deficiency of specific lysosomal enzymes that are required for the degradation of glycoproteins. Each statement about the glycoproteinoses is true EXCEPT
Correct Answer: C
Rationale: Enzyme replacement therapy is not widely available for most glycoproteinoses (e.g., mannosidosis), unlike some lipidoses.
Question 3 of 5
A 7-month-old white female presents with severe developmental delay and episodes of vomiting. Physical examination reveals blue eyes, light skin with an eczematoid rash, and hyperactive deep tendon reflexes. There is failure to thrive and microcephaly. The most likely diagnosis is
Correct Answer: D
Rationale: Phenylketonuria (PKU) causes developmental delay, microcephaly, rash, and light pigmentation if untreated.
Question 4 of 5
Complications of tyrosinemia include all of the following EXCEPT
Correct Answer: A
Rationale: Cataracts are not a feature of tyrosinemia; others (renal, liver, nerve issues) are common.
Question 5 of 5
Matching: Giant granules in granulocytes
Correct Answer: A
Rationale: Chédiak-Higashi syndrome features giant granules in neutrophils.