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

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Pediatric Endocrine Exam Questions Questions

Question 1 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 2 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.

Question 3 of 5

Physical findings in Graves disease include all of the following EXCEPT

Correct Answer: B

Rationale: Graves disease (hyperthyroidism) causes heat intolerance, not cold intolerance, which is seen in hypothyroidism.

Question 4 of 5

Treatment for the infant described in the previous question should include which of the following (choose as many as are appropriate)?

Correct Answer: B

Rationale: Hydrocortisone replaces cortisol in adrenal insufficiency (Addison’s). DOCA helps aldosterone deficiency (A also correct), but B is primary. Multiple correct: A, B; listed B as representative.

Question 5 of 5

Potential causes of central diabetes insipidus include all of the following EXCEPT

Correct Answer: D

Rationale: Graves disease (thyroid-related) does not cause central diabetes insipidus; others affect the pituitary or hypothalamus.

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