Genetics of cortisol-secreting bilateral macro- and micronodular adrenal hyperplasias
Bibliographic record
Abstract
Bilateral adrenal cortex hyperplasias can present in various forms and are divided as either macronodular or micronodular. This review presents the recent identifications of the genetic alterations responsible for the various forms of cortisol-secreting adrenal hyperplasias. These include the tumor suppressor genes ARMC5 in bilateral primary macronodular adrenal hyperplasia (PBMAH) and KDM1A in GIP-dependent PBMAH with Cushing’s syndrome. Other genetic alterations are found in PBMAH associated with rare syndromic forms and various cAMP/PKA pathway gene mutations are involved in both macronodular and micronodular adrenal hyperplasias. We present as well certain clinical recommendations for each genetic etiology, including that ARMC5 or KDM1A genetic testing should be offered to all patients with PBMAH, depending on the Cushing syndrome’s GIP-dependence or not.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".