Problems of the differential diagnosis of MODY3 in obesity
Bibliographic record
Abstract
MODY3 is one of the most common subtypes of MODY. Obesity in MODY3 patients modifies the disease course and complicates diagnostics at the clinical stage. A proband was diagnosed with type 2 diabetes mellitus (T2DM) at the age of 12 years; metformin therapy was used. A family history of DM involves three generations: the mother, aunt, and maternal grandfather have suffered from insulin-dependent DM since the age of 23, 22, and 40 years, respectively. The patient was examined at the age of 14 years. Obesity was present (SDS BMI 2.3). The insulin and C-peptide levels were 4.4 μU/mL and 1.5 ng/mL, respectively. The HbA1c level was 7.3%. Under glucose load, glycemia reached diabetic values; hyperinsulinemia and insulin resistance were not detected. Specific pancreatic antibodies were absent. Metformin was discontinued, and a sulfonylurea (SU) drug was prescribed, which had a positive effect. The heterozygous mutation p.P291fs was identified in the HNF1A gene. Therefore, MODY3 was verified. The presence of concomitant obesity in the patient significantly complicates the differential diagnosis, and only a careful comprehensive analysis of clinical and laboratory parameters and a family history makes it possible to suspect the diagnosis of MODY3 (requiring subsequent molecular genetic verification) and prescribe pathogenetic therapy.
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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 | 0.002 | 0.008 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".