Question 1 · Hard
A 13-year-old boy in Al Ain has had thirst and polyuria for 3 weeks. He weighs 92 kg (BMI 33 kg/m², above the 99th percentile for age) and has dark, velvety skin on the back of his neck. His mother developed type 2 diabetes at 41; his father does not have diabetes. At presentation: random plasma glucose 16.4 mmol/L (295 mg/dL); HbA1c 9.2% (77 mmol/mol); venous pH 7.37 (reference 7.32-7.43); bicarbonate 23 mmol/L; beta-hydroxybutyrate 0.4 mmol/L (reference below 0.6). Next morning: fasting glucose 9.8 mmol/L (177 mg/dL) and C-peptide 1.6 nmol/L (4.8 ng/mL) (fasting reference 0.3-1.0 nmol/L). GAD65, IA-2 and ZnT8 antibodies are all negative. The best-supported classification is:
- AMaturity-onset diabetes of the young
- BAutoimmune type 1 diabetes
- CIdiopathic (type 1B) diabetes
- DType 2 diabetes
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Answer: D · Type 2 diabetes
The boy has severe obesity and acanthosis nigricans, both signs of insulin resistance, and a parent with type 2 diabetes. His fasting C-peptide is raised despite hyperglycemia, so insulin secretion is preserved, and he has no ketosis or acidosis. Negative GAD65, IA-2 and ZnT8 antibodies make autoimmune type 1 diabetes unlikely, and type 1B diabetes means insulin deficiency without autoimmunity, which the high C-peptide rules out. MODY is suspected in antibody-negative young people without obesity or insulin resistance who have diabetes in several generations, which does not fit here. Youth-onset type 2 diabetes is rising with childhood obesity, and the ADA still advises islet antibody testing in obese children, because some of them have type 1 diabetes.
- A: MODY is suspected in non-obese, antibody-negative patients with diabetes across generations, not with marked insulin resistance.
- B: All three islet antibodies are negative and C-peptide is high, so autoimmune insulin deficiency is unlikely.
- C: Type 1B diabetes means insulin deficiency without autoimmunity, but his C-peptide is raised.