ATI RN
Endocrine System in Pediatrics Questions
Question 1 of 5
A 6-year-old tall and thin boy who had failed preparatory exam for school entry found to have myopia and subluxation of the ocular lens. Of the following, the MOST important challenge is to know whether he is responsive to
Correct Answer: D
Rationale: Homocystinuria, suggested by tall stature, lens subluxation, and myopia, responds to vitamin B6 (pyridoxine) in some cases, critical for management, unlike other vitamins (A, B, C, E).
Question 2 of 5
A 7-month-old boy presented with recurrent attacks of hypoglycemic seizures especially during an acute illness. On examination, there are thin extremities, protuberant abdomen, and hepatomegaly. All the following are biochemical hallmarks of this disease EXCEPT
Correct Answer: D
Rationale: Von Gierke disease (GSD I) causes lactic acidosis (A), hypoglycemia (B), hyperuricemia (C), and hyperlipidemia (D). Elevated transaminases (E) are less prominent, more typical of other liver disorders.
Question 3 of 5
A 9-month-old boy presented with persistent head lag, rapid breathing, difficult feeding, and hepatomegaly. Chest X- ray showed cardiomegaly. Of the following, the MOST appropriate confirmatory test is
Correct Answer: D
Rationale: Pompe disease (GSD II) with hypotonia, hepatomegaly, and cardiomegaly is confirmed by enzyme assay (acid α-glucosidase) in dried blood spots, more practical than biopsies (A, B) or nonspecific tests (C, D).
Question 4 of 5
All the following are common features between hereditary fructose intolerance and galactosemia EXCEPT
Correct Answer: D
Rationale: HFI and galactosemia share failure to thrive (A), renal (B) and hepatic (C) impairment, and reducing substances (D). Intellectual disability (E) is specific to untreated galactosemia, not HFI.
Question 5 of 5
All the following mucopolysaccharidoses are inherited as autosomal recessive EXCEPT
Correct Answer: C
Rationale: Hunter disease (MPS II) is X-linked, unlike autosomal recessive Hurler (A), Scheie (B), Morquio (D), and Sanfilippo (E).