ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 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 2 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 3 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.
Question 4 of 5
Enzyme replacement is the main therapy of Hurler disease, it improve all the following EXCEPT
Correct Answer: D
Rationale: ERT in Hurler syndrome (MPS I) improves growth (A), mobility (B), organomegaly (C), and apnea (E), but cognitive impairment (D) persists due to CNS GAG accumulation.
Question 5 of 5
In mucopolysaccharidosis, disproportionate severe CNS involvement with mild physical features is unique to
Correct Answer: D
Rationale: Sanfilippo disease (MPS III) uniquely features severe CNS involvement (dementia) with milder somatic findings, unlike others (A-D).