All the following are characteristic features of infantile Refsum disease EXCEPT

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Endocrine System Pediatric Questions

Question 1 of 5

All the following are characteristic features of infantile Refsum disease EXCEPT

Correct Answer: B

Rationale: Infantile Refsum disease features ataxia (A), hearing loss (C), cognitive impairment (D), and retinal degeneration (E). Hypertonia (B) is less typical, with hypotonia more common.

Question 2 of 5

A 12-year-old female has muscle cramps and tingling of her hands and feet unrelated to exertion. When she grabs a door handle to open the door, she is unable to release her grasp because her hand is in spasm. The most important laboratory test is

Correct Answer: B

Rationale: Symptoms suggest tetany (e.g., carpopedal spasm) due to hypocalcemia, making serum calcium the key test.

Question 3 of 5

A mother and her 14½-year-old daughter come to you because the girl has not begun to menstruate. Findings on her medical history and complete physical examination are normal. Breast development and pubic hair have been present for 18 months and are normal. Which would be the most appropriate?

Correct Answer: A

Rationale: Normal puberty with Tanner stage progression suggests menstruation will likely start soon; reassurance is appropriate.

Question 4 of 5

Children with growth hormone deficiency are best characterized by all of the following EXCEPT

Correct Answer: A

Rationale: GH deficiency typically presents with normal birth weight; growth failure occurs postnatally.

Question 5 of 5

A 6-year-old female presents with breast enlargement and pubic hair development. Otherwise, she is asymptomatic. Her serum LH level is elevated. The most likely diagnosis is

Correct Answer: D

Rationale: Elevated LH with puberty signs at age 6 indicates central precocious puberty (gonadotropin-dependent).

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