Late Diagnosis of Prader-Willi Syndrome in an Adolescent With Significant Complications of Type 2 Diabetes
Bibliographic record
Abstract
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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".