ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
Galactosemia is an autosomal recessive disease characterized by all the following EXCEPT
Correct Answer: C
Rationale: Galactosemia (galactose-1-phosphate uridyltransferase deficiency) causes hyperbilirubinemia, coagulopathy, glycosuria, and aminoaciduria from galactose accumulation, but hyperglycemia is not typical as glucose metabolism is unaffected.
Question 2 of 5
A relative parents brought their underweight 6-month-old female infant who has high foreheads, flat orbital ridges, widely open fontanelles, hepatomegaly, hypotonia, and nystagmus; she had history of recurrent seizures. Of the following, the MOST likely diagnosis is
Correct Answer: B
Rationale: Zellweger syndrome, a peroxisomal disorder, presents with dysmorphic features (high forehead, flat ridges), hepatomegaly, hypotonia, seizures, and nystagmus, consistent with this case and consanguinity.
Question 3 of 5
In children with Down syndrome (DS), the type of leukemia varies by age. In those younger than 2 years, it is generally
Correct Answer: D
Rationale: In children with DS younger than 2 years, the type is generally acute megakaryoblastic leukemia; in individuals older than 3 years, acute lymphoblastic leukemia predominates.
Question 4 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Glutaric acidemia (type II)
Correct Answer: C
Rationale: Glutaric acidemia type II produces a sweaty feet-like odor due to accumulation of organic acids from fatty acid oxidation defects.
Question 5 of 5
Matching: Match the disease with its enzyme - Iduronidase
Correct Answer: A
Rationale: Hurler syndrome (MPS I) results from iduronidase deficiency, causing mucopolysaccharide buildup.