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Maturity Onset Diabetes of the Young


Step 1: View clinicals

A 10 year old caucasian boy is referred for further management after his fasting plasma glucose is found to be 132 mg/dl. During the preceding year, he had experienced several episodes of increased urination, thirst and appetite. His mother and maternal grandfather were diagnosed with diabetes at the ages of 27 and 30 respectively.

Step 2: Order all relevant investigations

Endocrine panel

Low dose dexamethasone suppression test: negative Free-T3, Free-T4, S. TSH: Within normal parameters

Diabetes mellitus autoantibody panel

No autoantibodies (ICA, IAA or GAD) are detected.

C peptide level

The C-peptide level is 1.50 ng/ml (normal: 0.51 - 2.72)

Genetic testing

A heterozygous missense mutation is detected in the glucokinase gene

Step 3: Select appropriate management

Insulin stat
Oral hypoglycemics stat
Screen family members
Dietary measures

Score: ★★☆