All the following mucopolysaccharidoses are inherited as autosomal recessive EXCEPT

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Endocrine System in Pediatrics Questions

Question 1 of 5

All the following mucopolysaccharidoses are inherited as autosomal recessive EXCEPT

Correct Answer: C

Rationale: Hunter disease (MPS II) is X-linked, unlike autosomal recessive Hurler (A), Scheie (B), Morquio (D), and Sanfilippo (E).

Question 2 of 5

The MOST common electrolyte abnormality in acute intermittent porphyria is

Correct Answer: B

Rationale: Hyponatremia is common in AIP from SIADH or GI losses, more frequent than other imbalances (A, C, D, E).

Question 3 of 5

A 3-year-old boy presented to emergency unit at 9:00 AM with history of difficult arousal from sleep, flue like illness, and low grade fever; the mother stated that he had slept without having his supper. Fasting blood sugar was 42 mg/dL. The following metabolic changes are seen in this condition EXCEPT

Correct Answer: C

Rationale: Ketotic hypoglycemia from fasting and illness shows ketonuria (A), low insulin (B), and elevated cortisol (D) and GH (E). High alanine (C) is not typical, as it’s consumed for gluconeogenesis.

Question 4 of 5

All the following drugs are secondary causes of hypertriglyceridemia EXCEPT

Correct Answer: A

Rationale: Estrogen (B), thiazides (C), β-blockers (D), and steroids (E) increase triglycerides. Tegretol (carbamazepine, A) does not, primarily affecting neurology.

Question 5 of 5

All the following are features of neonatal adrenoleukodystrophy (ALD) EXCEPT

Correct Answer: D

Rationale: Neonatal ALD includes hepatomegaly (A), liver dysfunction (B), hearing loss (C), and retinal changes (E). Chondrodysplasia punctata (D) is more typical of other peroxisomal disorders.

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