In mucopolysaccharidosis, disproportionate severe CNS involvement with mild physical features is unique to

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Pediatric Endocrine Exam Questions Questions

Question 1 of 5

In mucopolysaccharidosis, disproportionate severe CNS involvement with mild physical features is unique to

Correct Answer: D

Rationale: Sanfilippo disease (MPS III) uniquely features severe CNS involvement (dementia) with milder somatic findings, unlike others (A-D).

Question 2 of 5

In older infants and children, hypoglycemia is defined as whole blood glucose concentration less than

Correct Answer: D

Rationale: Hypoglycemia in children is defined as blood glucose <60 mg/dL, a standard threshold, unlike lower neonatal values (A-C) or higher normal ranges (E).

Question 3 of 5

The MOST specific and important laboratory finding in X-linked adrenoleukodystrophy (ALD) is elevated level of

Correct Answer: D

Rationale: Elevated very long chain fatty acids (VLCFAs) are the specific diagnostic marker for X-linked ALD, reflecting peroxisomal dysfunction, unlike hormones (A, B, C, E).

Question 4 of 5

A 3-year-old boy presented to emergency unit at 10:00 AM with history of difficult arousal from sleep, lethargy, vomiting, and seizures; the mother stated that he had slept without having his supper. Fasting blood sugar was 38 mg/dL and urinary ketone was low. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: MCAD deficiency presents with hypoketotic hypoglycemia, lethargy, and seizures after fasting, unlike ketotic hypoglycemia (C) or other metabolic disorders (A, B, D).

Question 5 of 5

The normally functioning organ in Hutchinson-Gilford progeria syndrome (progeria) is

Correct Answer: A

Rationale: Progeria spares the eyes (A), while skin (C), heart (E), and other systems age prematurely. Ears (B) and liver (D) are less highlighted but not typically normal.

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