ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
Individuals homozygous for galactokinase deficiency usually develop
Correct Answer: B
Rationale: Galactokinase deficiency leads to galactose accumulation forming galactitol, causing cataracts after the neonatal period. It lacks the severe systemic effects (A, D, E) or cognitive impact (C) of classic galactosemia.
Question 2 of 5
Mucopolysaccharidoses (MPS) affect many solid organs, hepatosplenomegaly or hepatomegaly is usual finding, but the liver and spleen are normal in
Correct Answer: C
Rationale: MPS III (Sanfilippo) typically lacks hepatosplenomegaly, focusing on neurological deterioration, unlike other MPS types where organomegaly is common.
Question 3 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 4 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Methionine malabsorption
Correct Answer: A
Rationale: Methionine malabsorption (oasthouse syndrome) produces a cabbage-like or malty odor from unmetabolized methionine.
Question 5 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.