ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
In Edwards syndrome (trisomy 18), characteristic features include
Correct Answer: B
Rationale: In Edwards syndrome, you find rocker-bottom feet, hypoplastic nails, and characteristic clenching of fists (second and fifth digits overlap third and fourth), distinguishing B as a key feature.
Question 2 of 5
Matching: Match the disease with its enzyme - β-Hexosaminidase A
Correct Answer: C
Rationale: Tay-Sachs disease is caused by β-hexosaminidase A deficiency, resulting in GM2 ganglioside buildup.
Question 3 of 5
Plasma very-long-chain fatty acids are elevated in all of the following peroxisomal disorders EXCEPT
Correct Answer: B
Rationale: Rhizomelic chondrodysplasia punctata involves plasmalogen synthesis defects, not VLCFA elevation, unlike the others.
Question 4 of 5
A 10-year-old girl is noted on a routine physical examination to have splenomegaly. Laboratory testing reveals thrombocytopenia and moderate edema, and she is referred to a hematologist for further evaluation. Bone marrow aspiration is performed and reveals the presence of Gaucher cells. When discussing therapeutic options with the parents of this child, it would be most appropriate to include which of the following statements?
Correct Answer: D
Rationale: Enzyme replacement therapy (e.g., imiglucerase) effectively reverses hematologic issues in Gaucher type I.
Question 5 of 5
The best approach to the diagnosis of the patient in the previous question is
Correct Answer: B
Rationale: Fumarylacetoacetate hydrolase assay confirms tyrosinemia type I by detecting enzyme deficiency.