ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
In the classic phenylketonurea, the affected infant is normal at birth, intellectual disability develops gradually if the infant remains untreated, and cognitive delay may not be evident for the first few months. All the following are true about neonatal screening program of this condition EXCEPT
Correct Answer: B
Rationale: The Guthrie test (A) was first, levels rise early (C), modern methods reduce false positives (D), and confirmation is needed (E). However, the optimal Guthrie test time is 24-48 hours, not 7-14 days, to ensure feeding elevates phenylalanine.
Question 2 of 5
The diagnosis of homocystinuria is usually made after 3 yr of age when the ophthalmologist found
Correct Answer: D
Rationale: Ectopia lentis (lens subluxation) is a hallmark of homocystinuria, often detected by ophthalmologists after age 3, unlike cataracts (A), glaucoma (B), astigmatism (C), or retinal detachment (E).
Question 3 of 5
All the following are recognized feature of Niemann-pick disease type B EXCEPT
Correct Answer: C
Rationale: Niemann-Pick type B features normal IQ (A), lung disease (B), minimal neurology (D), and occasional cherry-red spots (E). Prolonged jaundice (C) is more typical of type A or other conditions.
Question 4 of 5
A 3-year-old girl presented with growth retardation, recurrent attacks of otitis media, diarrhea, and hypoglycemic seizures. On examination, there is hepatomegaly and her absolute neutrophil count (ANC) is 600/μL. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: GSD Ib causes hypoglycemia, hepatomegaly, and neutropenia (ANC 600) from impaired glucose-6-phosphate transport, unlike other neutropenia causes (A, B, C, E).
Question 5 of 5
Irreversible complication of untreated galactosemia is
Correct Answer: D
Rationale: Untreated galactosemia causes irreversible intellectual disability from brain damage, more permanent than cataracts (B), sepsis (A), or organ injuries (C, D), which may be treatable.