ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 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 2 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 3 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 4 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 5 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.