Type 2 diabetes mellitus (T2DM) is increasingly diagnosed in children and adolescents, raising concerns regarding early identification and management. This report presents the case of a 7-year-old girl with an atypical presentation of T2DM, emphasizing the necessity for awareness of this condition in pediatric populations.

The patient was evaluated at a pediatric endocrine outpatient clinic after presenting with nocturnal enuresis, polydipsia, and polyphagia over a period of 4 to 6 weeks. Her developmental history was unremarkable, but she had a significant family history of diabetes. Initial physical examination revealed obesity, with a weight of 40 kg (greater than the 99th percentile) and acanthosis nigricans. Laboratory tests were conducted, including fasting and random plasma glucose measurements, glycated hemoglobin (HbA1c), and C-peptide levels. Autoantibody tests were also performed to differentiate between type 1 and type 2 diabetes.

Laboratory findings indicated a fasting plasma glucose of 210 mg/dL and a random plasma glucose of 320 mg/dL. The HbA1c level was 10.5%, confirming the diagnosis of diabetes. Notably, all checked type 1 diabetes autoantibodies, including GAD-65 and IA-2, were negative. The fasting C-peptide level was elevated at 2.5 ng/mL, indicating endogenous insulin production. A total of 14 MODY-related genes were tested, with no pathogenic variants identified. The patient was initially started on a basal-bolus insulin regimen, followed by the introduction of metformin, which was later discontinued due to gastrointestinal side effects. The patient was transitioned to premixed insulin and semaglutide to enhance glycemic control and assist with weight management.

This case highlights the increasing prevalence of T2DM in pediatric patients and the critical role of early diagnosis and intervention. The patient’s unique presentation, coupled with a significant family history of diabetes, underscores the need for heightened clinical suspicion among healthcare providers. Regular monitoring and individualized treatment plans are essential to manage this condition effectively and prevent complications. This report advocates for increased screening for T2DM in children, particularly those with risk factors, to ensure timely and appropriate management.