ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
Sweaty feet odor is seen in untreated infants with
Correct Answer: A
Rationale: Isovaleric acidemia produces a distinctive 'sweaty feet' odor from isovaleryl-CoA accumulation, unlike other listed disorders.
Question 2 of 5
Williams syndrome is characterized by
Correct Answer: C
Rationale: Williams syndrome results from a small deletion on chromosome 7q, causing moderate intellectual disability (IQ 50-60), a 'cocktail party' personality, and occasional musical ability, with about 10% showing autism features.
Question 3 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 4 of 5
A 15-year-old Ashkenazi Jewish girl is seen because of chronic fatigue. On examination, she seems pale and thin and has a somewhat large abdomen. Her spleen is felt in the iliac fossa. She is mentally alert and has a history of normal development and normal school performance. Her blood count shows hemoglobin of 9.0 g/dL and a white blood cell count of 3000 with normal differential and no abnormal cells. Platelet count is 60,000. The likely diagnosis is
Correct Answer: C
Rationale: Gaucher type I, common in Ashkenazi Jews, presents with splenomegaly, anemia, and thrombocytopenia without neurologic involvement.
Question 5 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.