Case Report of Bilateral Pheochromocytomas due to a Novel Max Mutation in a Patient Known to have a Pituitary Prolactinoma
Bibliographic record
Abstract
Objective: To report on a patient with a known pituitary prolactinoma also found to have bilateral pheochromocytomas due to a novel germline MAX (MYC-associated factor X) gene mutation. Methods: Case report and literature review. Results: This patient was a 39-year-old female who presented with a 2-year history of episodes of sweating, palpitations, and elevated blood pressure. She had no family history of pheochromocytoma or paraganglioma syndromes. Her past medical history was significant for a pituitary prolactinoma diagnosed 6 years prior and well controlled with cabergoline. Bloodwork showed serum normetanephrine at 6,238 pg/mL (reference range, <148 pg/mL), serum metanephrine at 388 pg/mL (reference range, <57 pg/mL), and parathyroid hormone at 69.8 pg/mL (reference range, 10 to 65 pg/mL). Imaging revealed bilateral adrenal masses with significant uptake on nuclear imaging. Genetic testing was positive for a novel germline MAX gene mutation at c.171+2T>A. Bilateral adrenalectomy normalized all bloodwork and symptoms. Conclusion: To our knowledge, this is the fifth reported case of an association between a pheochromocytoma and pituitary adenoma—three with a prolactinoma and two with acromegaly—in patients with a germline MAX mutation. This supports the possibility of a MAX gene mutation being the cause for a syndromic disease. Abbreviations: MAX = MYC-associated factor X; MIBG = metaiodobenzylguanidine; PCC = pheochromocytoma; PGL = paraganglioma; TH = parathyroid hormone; SDH = succinate dehydrogenase
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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 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.005 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 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".