Growth Hormone and Insulin Growth Factor-I insensitivity: Case Report of a Patient With Severe Short Stature
Bibliographic record
Abstract
Normal GH secretion and functional integrity of the growth hormone (GH) and insulin growth factor (IGF)-I axis are essential for linear growth. Primary GH deficiency causes short stature and, when treated with recombinant human (rh) GH, normal adult height is generally achieved. Cases of GH insensitivity are treated with rhIGF-I, with more modest increases in height. Several genetic defects have been identified in the GH-IGF-I axis. We present the case of a 5-year-old boy with severe short stature (-4.4SDS) and evidence of primary GH deficiency. Treatment with rhGH was ineffective. Latter, rhIGF-I and androgens were sequentially introduced. Growth velocity peaked during treatment with exogenous androgens, but height SDS was persistently between -4.6 and -5.1. At age 17, his height was 140.3 cm (-4.5SDS). Genetic analysis for GH-IGF axis mutations was negative. We believe this patient presents a yet unrecognised mutation affecting multiple sites of the GH-IGF axis. To our knowledge, there are no previously reported cases with this pattern of growth and irresponsiveness to therapy. doi: http://dx.doi.org/10.4021/jem177w
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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 | 0.002 |
| 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 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 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".