Case Report of Bilateral Pheochromocytomas due to a Novel Max Mutation in a Patient Known to have a Pituitary Prolactinoma
Bibliographic record
Abstract
<h2>ABSTRACT</h2> <b>Objective:</b> To report on a patient with a known pituitary prolactinoma also found to have bilateral pheochromocytomas due to a novel germline <i>MAX</i> (MYC-associated factor X) gene mutation. <b>Methods:</b> Case report and literature review. <b>Results:</b> 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 <i>MAX</i> gene mutation at c.171+2T>A. Bilateral adrenalectomy normalized all bloodwork and symptoms. <b>Conclusion:</b> 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 <i>MAX</i> mutation. This supports the possibility of a <i>MAX</i> gene mutation being the cause for a syndromic disease. <b>Abbreviations: MAX</b> = MYC-associated factor X; <b>MIBG</b> = metaiodobenzylguanidine; <b>PCC</b> = pheochromocytoma; <b>PGL</b> = paraganglioma; <b>TH</b> = parathyroid hormone; <b>SDH</b> = succinate dehydrogenase
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".