The MOST common cardiac defect in Turner syndrome is

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Endocrine System Pediatrics Questions

Question 1 of 5

The MOST common cardiac defect in Turner syndrome is

Correct Answer: B

Rationale: Bicuspid aortic valve (B) is the most frequent cardiac anomaly in Turner syndrome.

Question 2 of 5

Diabetic ketoacidosis (DKA) may be arbitrarily classified as mild, moderate, or severe. Venous pH in severe DKA is

Correct Answer: B

Rationale: Severe DKA is defined by pH <7.10 (B), per pediatric guidelines.

Question 3 of 5

Guidelines suggest that prepubertal T1DM patients should commence screening for retinopathy

Correct Answer: D

Rationale: Screening for retinopathy in prepubertal T1DM begins 5 years after diagnosis (D), per ADA.

Question 4 of 5

One of the following do not appear to be of concern in cystic fibrosis-related diabetes (CFRD)

Correct Answer: B

Rationale: Macrovascular complications (B) are less common in CFRD compared to T1/T2DM.

Question 5 of 5

A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days; IV fluid and empirical antibiotics were started; later she develops repeated seizures not responding to IV calcium, glucose, B6, and anticonvulsant drugs. Septic screen is negative; serum ammonia is elevated with normal anion gap and normal pH. Family history reveals 2 siblings died with same scenario. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: Elevated ammonia with normal anion gap and pH, plus neonatal seizures and family history, points to urea cycle defects (e.g., OTC deficiency), unlike galactosemia (A), hyperglycinemia (B), organic acidemias (C), or PKU (D), which have different metabolic profiles.

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