Possible Non-Mendelian Mechanisms of Thyroid Dysgenesis
Bibliographic record
Abstract
Most research on the molecular mechanisms of thyroid dysgenesis over the past decade has focussed on the Mendelian mechanisms that may account for the few (5%) cases in which there is an affected relative. This chapter first reviews methodological issues in the imaging techniques used to classify thyroid dysgenesis into its various forms (ectopic thyroid, agenesis, orthotopic hypoplasia and hemiagenesis). It then reviews the evidence that non-Mendelian mechanisms must be involved in the vast majority of cases of this disease, for which the percentage of sporadic cases and of discordance between monozygotic twins exceeds 95%. Among the mechanisms reviewed are early somatic mutations and epigenetic changes in genes involved in thyroid development such as the thyroid transcription factors TTF-1, TTF-2 and PAX-8. The possible role of extrathyroid genes involved in the control of migration of the median thyroid bud during embryogenesis, such as adhesion molecules, and of vascular factors involved in the stabilization of the bilobed structure of the thyroid is also discussed.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
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".