39 A Donhue’s syndrome case : rare severe syndromic insuline resistance
Bibliographic record
Abstract
Background Donohue Syndrome is the most severe form of the rare genetic severe insulin resistance syndromes caused by mutation in the insulin gene receptor (INSR) with a lifespan under 2 years mainly because of intercurrent infections.Resulting from a homozygous or compound heterozygous mutations of the INSR (INSR; 19p13.3– p13.2). It associates severe growth retardation beginning prenatally, hyperinsulinism with hyperglycemia and dysmorphic features.We report this case due to the extreme rarity of the syndrome and to present its clinical, biological findings and the underlying genetics.Case Report(s) The case is an Algerian female infant born to consanguineous parents via caesarian section at 37weeks gestation due to severe intrauterine growth restriction.She was admitted in our department at 4months old showing septic signs (high fever, tachycardia) with severe growth stunt (over -7DS), lipoatrophy, cholestasis, abdominal distension and dysmorphic features: craniofacial abnormalities with elfin facies and large low set ears, hypertrichosis and clitoromegaly.Laboratory results showed hyperinsulinism with high insulin, peptic C and fasting hypoglycemia; postprandial hyperglycemia ; cholestatic hyperbilirubinemia and low triglyceride and cholesterol levels. C-reactive protein was high.This presentation suggested DS which was confirmed by finding of a homozygous deletion in 19 p13.2 encompassing exon 2 of INSR.Antibiotics were immediately put and growth hormone therapy was initiated (0,35 mg/kg/d); unfortunately, 3 days later she died from apparent septicemia. Our patient had no opportunity for treatment with recombinant IGF-1.Conclusion(s) Our case shows a classic presentation of DS, with a fatal prognosis. Treatment is only symptomatic and requires a multidisciplinary team. Recombinant IGF-1 shows promise but the benefit is yet to be established.Majority of cases are found where consanguineous marriages prevail, thus genetic counseling and discouraging inbreeding should be done as preventive measures awaiting optimal treatment protocol.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".