Noonan syndrome is associated with all of the following EXCEPT

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Pediatric Endocrine Exam Questions Questions

Question 1 of 5

Noonan syndrome is associated with all of the following EXCEPT

Correct Answer: B

Rationale: Noonan syndrome is caused by gene mutations (e.g., PTPN11), not chromosomal duplication.

Question 2 of 5

You are going to treat a 7-year-old boy with type 1 diabetes mellitus who develops DKA due to a recent infection. Examination reveals severe dehydration and deep acidotic breathing. Lab investigations shows: blood glucose, 450 mg/dL; blood pH, 7.2; and serum bicarbonate concentration, 14 mEq/L. Which of the following should be avoided during the treatment of this girl?

Correct Answer: C

Rationale: Bicarbonate is generally avoided in DKA treatment unless pH is critically low (<6.9), as it may worsen cerebral edema or cause paradoxic acidosis. Lactated Ringer (A), glucose (B) later in treatment, insulin (D), and potassium (E) are standard components.

Question 3 of 5

The upper-to-lower segment ratio is one of methods for growth assessment that changes with age. Of the following, this ratio becomes 1:1 at the age of

Correct Answer: D

Rationale: The upper-to-lower segment ratio decreases with age, reaching approximately 1:1 around 10 years as leg growth outpaces trunk growth, a normal developmental milestone.

Question 4 of 5

A 16-year-old boy has delayed puberty and absence of secondary sexual characteristics; he has decreased sense of smell. Examination reveals shortening of the fourth finger. MRI of the brain shows absence of the olfactory bulbs and sulci; abdominal ultrasonography shows absence of the right kidney. Of the following, the MOST likely diagnosis is

Correct Answer: B

Rationale: Kallmann syndrome features hypogonadotropic hypogonadism, anosmia (absent olfactory bulbs), and may include renal agenesis or brachydactyly, matching this case. Other syndromes (A, C, D, E) lack this specific combination.

Question 5 of 5

You are examining a 10-month-old male infant during a routine visit; you find that he has wide wrists. He is still breast fed. X-ray of the wrist joint shows signs of rickets. Of the following, the BEST reflection of vitamin D deficiency is

Correct Answer: D

Rationale: Serum 25-hydroxyvitamin D is the best indicator of vitamin D status, reflecting stores and deficiency in rickets. Calcium (A), phosphate (B), PTH (C), and 1,25-hydroxyvitamin D (D) are affected but less direct measures.

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