All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT

Correct Answer: D

Rationale: MCAD deficiency causes hypoglycemia (A), hypoketonuria (B), hypoketonemia (C), and liver enzyme elevation (E) from fasting stress. Metabolic acidosis (D) is less prominent, unlike organic acidemias.

Question 2 of 5

Acquired hypothyroidism is associated with all of the following EXCEPT

Correct Answer: C

Rationale: Hyperparathyroidism affects calcium, not thyroid function; others are linked to hypothyroidism (e.g., lymphocytic thyroiditis is Hashimoto’s).

Question 3 of 5

An 8-month-old previously well infant is brought to the emergency room with vomiting, lethargy, dehydration, and failure to thrive. Intravenous administration of fluids is begun. Serum electrolyte values are sodium 124 mEq/L, chloride 88 mEq/L, and potassium 6.8 mEq/L. Serum glucose level is 35 mg/dL. The child is hypotensive and has areas of hyperpigmentation. The most likely diagnosis is

Correct Answer: A

Rationale: Addison disease (adrenal insufficiency) matches the presentation: hyponatremia, hyperkalemia, hypoglycemia, hypotension, and pigmentation.

Question 4 of 5

Suggestive laboratory features of classic growth hormone deficiency include all of the following EXCEPT

Correct Answer: D

Rationale: Low calcium is not a feature of GH deficiency; others reflect impaired GH-IGF axis.

Question 5 of 5

The next best step in the evaluation of the child in the previous question is to obtain a

Correct Answer: B

Rationale: Head MRI is needed to rule out hypothalamic-pituitary lesions causing central precocious puberty.

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