ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
Donohue syndrome is characterized by the following EXCEPT
Correct Answer: B
Rationale: Donohue syndrome (leprechaunism) features fasting hyperglycemia (not hypoglycemia, B) due to severe insulin resistance.
Question 2 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 3 of 5
A 10-day-old boy presented with lethargy, poor feeding, repeated vomiting, and recurrent hypoglycemic fits not responding to IV glucose. On examination, he was hypertonic with severe opisthotonos alternating with flaccidity. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Maple syrup urine disease (MSUD) presents neonatally with lethargy, vomiting, hypoglycemia, and neurological signs (opisthotonos, tone changes) from branched-chain amino acid buildup, unlike others (A-D).
Question 4 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 5 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.