Presentation
A 14-year-old boy presented to the endocrine outpatient department because of poor glycemic control. He had a strong family history of diabetes. His initial diabetes diagnosis was at age eight. The patient also had increased appetite and thirst over last three months. His capillary blood glucose at home was 10.0 mmol/L, leading to further evaluation.
Examination
At the time of initial diagnosis in 2019, the patient was in stage one of puberty with a body weight of 41 kg, height of 128 cm , and BMI of 25 kg/m².Physical examination revealed acanthosis nigricans. Systemic examinations were unremarkable. His birth history included cesarean delivery at 37 weeks of gestation and 3.5 kg birth weight. There was no history of neonatal hypoglycemia or convulsions.
Diagnosis
An oral glucose tolerance test confirmed diabetes. Fasting C-peptide was high, indicating preserved insulin production. Initial differential diagnosis included T2DM and maturity-onset diabetes of the young (MODY).However, the results were negative for GAD-65, ZnT8, and IA-2 autoantibodies. Genetic testing showed no pathogenic variants for 14 known MODY-associated genes. These characteristics confirmed the diagnosis of early-onset T2DM.
Management
The patient was initially treated with insulin, resulting in immediate clinical improvement and bedwetting resolution. However, the treatment regimen was changed from basal-bolus insulin with metformin to premixed insulin twice daily with metformin as patient had poor medication adherence and fluctuating glucose levels. His HbA1c improved from 11.1% to 8.0%.Semaglutide 0.25 mg once weekly was initiated in December 2024 to improve glycemic control and weight loss; however, metformin was discontinued as the patient experienced dyspepsia. A phone consultation confirmed improved blood glucose levels (fasting: between 5.0 and 5.7 mmol/L; post-prandial: <8.2 mmol/L) without hypoglycemia. The patient experienced significant weight loss after semaglutide initiation.
Follow-up
The patient had no evidence of diabetes-related microvascular or macrovascular complications. A trace of urinary albumin was detected once; however, it was not confirmed in follow-up testing. Efforts were made to guide the patient and family about adherence, lifestyle, and psychological support.