SUN-429 Primary Bilateral Macronodular Adrenal Hyperplasia with co-secretion of Aldosterone and Cortisol in a Patient with Hyperparathyroidism-Jaw Tumor Syndrome due to a Pathogenic CDC73 Mutation
Bibliographic record
Abstract
Abstract Disclosure: L. Martel-Duguech: None. A. Doreille: None. M. Latour: None. M. Thibodeau: None. N. Dumas: None. I. Bourdeau: None. Z. El Haffaf: None. A. Lacroix: None. Background: Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) is secondary to germline inactivating mutations of the tumor suppressor CDC73 gene. Affected patients often present in addition to severe HPT, lesions in kidney, uterus and thyroid. Primary bilateral macronodular adrenal hyperplasia (PBMAH) can be secondary to mutations in ARMC5 and less frequently in KDM1A, MEN1, APC or FH genes. We now report a patient with HPT-JT and germline CDC73 mutation who later developed PBMAH co-secreting cortisol and aldosterone without ARMC5 or MEN1 gene mutations. Case Presentation: a 54-y.o female was referred in 2013 for bilateral adrenal nodules with weight gain, fatigue, myopathy, hypertension with sleep apnea. Previous history included recurrent kidney stones since age 19, three parathyroidectomies (26, 46, 53 yo) for severe HPT, nephrocalcinosis, near end-stage renal disease and hysterectomy at age 35 for metrorrhagia. Abdominal CT without contrast showed PBMAH (multiple nodules up to 25 mm, 3 to 33 HU), very atrophic kidneys with extensive nephrocalcinosis and renal cysts. Hormonal dynamic testing confirmed suppressed ACTH with aberrant regulation of excess cortisol (443 nmol/L post-dex) and aldosterone production by vasopressin, upright posture and 5-HT4R agonists. Initial genetic testing excluded MEN1 pathogenic variants. Left adrenalectomy was performed in 2015 and pathology confirmed PBMAH; recent CYP11B2 IHC showed heterogeneous high expression of aldosterone synthase in wide portions of outer cortex, but it was negative in several central nodules, while CYP11B1 IHC is pending. Late night salivary cortisol and ACTH levels normalized with mild dysregulated cortisol secretion and residual primary aldosteronism was treated with spironolactone. In 2017, breast ductal carcinoma in situ (DCIS) was resected and she underwent kidney transplantation followed by immunosuppression including prednisone. Recently, progressive increase in cortisol secretion and ACTH suppression may require additional therapy. No jaw tumor was found at recent imaging. Genetic testing: in 2024, expanded panel genetic testing for HPT and PBMAH identified a pathogenic CDC73 pathogenic variant (c.512del, p.Arg171Serfs*31) without mutations in ARMC5, MEN1, RET, CASR, CDKN1B, GCM2. Family testing is currently under way. Conclusion: This is the first case of a patient with HPT-JT with CDC73 gene mutation who developed cortisol- and aldosterone-secreting PBMAH. This finding suggests the possibility that CDC73 mutations may also predispose to development of PBMAH. Presentation: Sunday, July 13, 2025
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".