SAT-477 Bilateral Adrenal Nodules Causing Cushing’s Syndrome and Primary Aldosteronism with Exclusive Hormone Production and Somatic PRKACA and KCNJ5 Variants Respectively
Bibliographic record
Abstract
Abstract Disclosure: M. Buchpiguel: None. M. Lacerda: None. M. Sousa: None. L.A. Tavares: None. M.R. Rolim: None. F. Ledesma: None. H. Charchar: None. V. Srougi: None. F. Tanno: None. M.Q. Almeida: None. J. Chambo: None. A. Latronico: None. A.M. Lerario: None. B.B. Mendonca: None. M.C. Fragoso: None. Introduction: Primary hyperaldosteronism (PHA) is a common cause of secondary hypertension, often linked to mild autonomous cortisol secretion (MACS). The rare co-secretion of aldosterone and cortisol, particularly with bilateral adenomas, is challenging to diagnose. Case Report: A 37-year-old woman from China presented with resistant hypertension since age 25, spontaneous hypokalemia, and ACTH-independent Cushing’s syndrome. Screening results included aldosterone 103 ng/dL (RV 2.5-39.2), renin 2.7 uUI/mL (RV 4.4-46.1), aldosterone/renin ratio 38.1, potassium 3.3 mg/dL (RV 3.5-5.5), and hypercortisolism (overnight dexamethasone suppression test 17.9 mcg/dL, (RV < 1,8), midnight salivary cortisol: 0.466 mcg/dL (RV <0,274), ACTH <2 pg/mL (RV 7,2 a 63,30), baseline cortisol: 19.4 mcg/dL (RV 3,7 - 19,4)). Abdominal CT showed bilateral adrenal nodules suggestive of adenomas. Due to the COVID-19 pandemic, adrenal venous sampling was not feasible. The patient underwent total left adrenalectomy and subtotal right adrenalectomy and surgical planning used PET-FDG uptake to define which side would undergo total adrenalectomy. Histopathology revealed bilateral adrenal adenomas (Weiss score 1), with the right nodule positive for CYP11B1 (cortisol production) and the left for CYP11B2 (aldosterone production). Subcapsular clusters in both adrenals expressing CYP11B2 raised concerns for recurrence. Post-surgery, the patient had secondary adrenal insufficiency; PHA resolved with normalized potassium and renin. She now requires one antihypertensive and hydrocortisone replacement. Genetic studies: DNA from blood and from each adrenal gland was performed and identified a known somatic pathogenic variants related to aldosterone and cortisol secretion PRKACA (p.L206R) and KCNJ5 : p.L168R. Discussion: This case highlights the rare independent and simultaneous occurrence of Cushing’s syndrome and PHA with bilateral adenomas. PET-FDG imaging was critical for surgical planning during the pandemic. Histopathological findings supported the 2021 International Consensus on primary hyperaldosteronism, underscoring CYP11B2's role in identifying aldosterone-producing lesions. The subcapsular CYP11B2-positive cells necessitate long-term monitoring for recurrence. Conclusion: This case illustrates the complexities of diagnosing and managing PHA with concurrent hypercortisolism. The use of PET-FDG in lieu of adrenal venous sampling is a valuable innovation in functional adenoma surgery. The presence of CYP11B2-positive clusters indicates a recurrence risk, emphasizing the importance of follow-up. The requirement for corticosteroid replacement may persist based on hypercortisolism severity, duration and and individual sensitivity to glucocorticoid receptors. Presentation: Saturday, July 12, 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 | 0.001 | 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 | 0.002 |
| Insufficient payload (model declined to judge) | 0.011 | 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".