ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
Matching: Hemizygotic male has complete syndrome
Correct Answer: D
Rationale: Nettleship-Falls ocular albinism is X-linked, fully expressed in hemizygous males.
Question 2 of 5
Matching: Dietary biotin deficiency
Correct Answer: C
Rationale: Dietary biotin deficiency, often from raw egg consumption (avidin binds biotin), causes skin and hair issues.
Question 3 of 5
A 5-day-old infant manifests tachypnea, poor feeding, vomiting, and decreased responsiveness. A sepsis workup is performed, and the child is started on a D10W infusion and receives ampicillin and cefotaxime. The condition worsens, and the child becomes unresponsive to stimuli. All cultures are negative after 48 hours. The arterial blood gas is 7.45, PCO2 36, PO2 100, the anion gap is normal, the blood glucose is 75 mg/dL, and serum ammonia is 500 μM. The most likely diagnosis is
Correct Answer: B
Rationale: Urea cycle defects (e.g., OTC deficiency) cause hyperammonemia without acidosis, fitting this profile.
Question 4 of 5
Chronic therapy for the patient in the previous question is best characterized by
Correct Answer: A
Rationale: Avoiding prolonged fasting prevents hypoglycemia in MCAD deficiency by maintaining glucose levels.
Question 5 of 5
Matching: Least severe
Correct Answer: D
Rationale: Refsum disease is among the least severe, treatable peroxisomal disorders.