Late Diagnosis of Prader-Willi Syndrome in an Adolescent With Significant Complications of Type 2 Diabetes

Youth-onset type 2 diabetes (YO-T2D) is on the rise and disproportionately affects those from low socioeconomic status and specific ethnic and racial minority groups. YO-T2D has a more aggressive phenotype than adult-onset T2D. We present a case of a 14-year-old patient who presented after a fall and was found to be acutely unwell with significant peripheral edema. Initial investigations indicated hyperglycemic hyperosmolar state, acute kidney injury, and nephrotic range proteinuria, leading to a new diagnosis of T2D. Subsequent evaluation revealed mild retinopathy and diabetic nephropathy. Sixteen months prior, glycated hemoglobin (HbA1c) was > 16% (reference range, ≤ 6.0%) with no treatment initiated at that time. The patient was initially treated with multiple daily insulin injections prior to starting empagliflozin-metformin. The presence of developmental delays, short stature, and hypogonadism prompted genetic testing, which confirmed a diagnosis of Prader-Willi syndrome, a neurodevelopmental disorder associated with hyperphagia and early-onset obesity. This case underscored the severity of YO-T2D, risks of delayed healthcare access, and considerations for optimal diabetes management.