ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
A definitive diagnosis of mucopolysaccharidoses disorder is established by
Correct Answer: B
Rationale: Enzyme assay confirms MPS by detecting specific enzyme deficiencies, more definitive than biopsy (A), imaging (C), marrow (D), or GAG screening (E).
Question 2 of 5
At 10:00 AM Lylaa's mother brought her 3-year-old daughter to emergency department with difficult arousal from sleep, low grade fever, and cough for the last 2 days. Fasting blood sugar was 36 mg/dL with ketonuria. Of the following, the MOST likely diagnosis is
Correct Answer: C
Rationale: Ketotic hypoglycemia, common in young children, presents with fasting hypoglycemia and ketonuria after illness, unlike metabolic disorders (A, B, D, E) with different profiles.
Question 3 of 5
Smith Lemli-Opitz Syndrome (SLOS) is characterized by all the following EXCEPT
Correct Answer: A
Rationale: SLOS features cleft palate (B), microcephaly (C), retromicrognathia (D), and retardation (E). Epispadias (A) is not typical; hypospadias is more common.
Question 4 of 5
All the following are characteristic features of infantile Refsum disease EXCEPT
Correct Answer: B
Rationale: Infantile Refsum disease features ataxia (A), hearing loss (C), cognitive impairment (D), and retinal degeneration (E). Hypertonia (B) is less typical, with hypotonia more common.
Question 5 of 5
Xanthomas are a feature of all the following EXCEPT
Correct Answer: D
Rationale: Xanthomas occur in hypercholesterolemia (A), dysbetalipoproteinemia (B), and combined hyperlipidemia (C). Familial chylomicronemia (D) and hypertriglyceridemia (E) cause pancreatitis, not xanthomas.