To evaluate the patient in the previous question, all of the following are appropriate EXCEPT

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

To evaluate the patient in the previous question, all of the following are appropriate EXCEPT

Correct Answer: D

Rationale: 17-hydroxyprogesterone is for congenital adrenal hyperplasia, not organic acidemia evaluation.

Question 2 of 5

Serum amino acids are normal and the urine orotic acid is elevated in the patient in the previous question. The most likely diagnosis is

Correct Answer: D

Rationale: Elevated orotic acid with hyperammonemia points to ornithine transcarbamylase (OTC) deficiency.

Question 3 of 5

Matching: Peroxisomal disorder

Correct Answer: A

Rationale: All listed conditions (e.g., Zellweger) are peroxisomal disorders.

Question 4 of 5

A 7-year-old male previously 'A' student demonstrates progressive hyperactivity is diagnosed with attention deficit hyperactivity disorder. Despite therapy, his school performance deteriorates. He has difficulty understanding people when spoken to on the telephone. Seizures developed 6 months later. Physical examination reveals slight diffuse hyperpigmentation, spasticity, and reduced deep tendon reflexes. The most likely diagnosis is

Correct Answer: D

Rationale: X-linked adrenoleukodystrophy (ALD) causes progressive neurologic decline, seizures, and adrenal insufficiency (pigmentation).

Question 5 of 5

Matching: Lipidosis - Sandhoff

Correct Answer: C

Rationale: Sandhoff disease has both cherry red spot and hepatosplenomegaly.

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