Journal
EUROPEAN JOURNAL OF ENDOCRINOLOGY
Volume 187, Issue 4, Pages 519-530Publisher
BIOSCIENTIFICA LTD
DOI: 10.1530/EJE-22-0286
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Funding
- Taiwan National Science Council
- National Health Research Institutes [104-2314-B-002-125-MY3, 106-2314-B-002-166-MY3, 107-2314-B-002-026-MY3]
- National Taiwan University Hospital [PH-102-SP-09]
- Ministry of Science and Technology (MOST) of the Republic of China (Taiwan) [106-FTN20, 106-P02, UN106-014, 106-S3582, 107-S3809, 107-T02, PC1246, VN109-09, 109-S4634, UN109-041]
- Mrs Hsiu-Chin Lee Kidney Research Fund [MOST 106-2321-B-182-002]
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The study found that CPA-related mutations were detected in 36.7% of uPA/ACS adenomas. The presence of these mutations was associated with higher post-DST cortisol levels, larger adenoma sizes, and a high percentage of non-classical uPA. However, these mutations did not significantly affect the clinical and biochemical outcomes after adrenalectomy of uPA/ACS patients but they showed a better trend.
ObjectiveConcurrent autonomous cortisol secretion (ACS) in patients with primary aldosteronism (PA) is being reported more frequently. Several somatic mutations including PRKACA, GNAS, and CTNNB1 were identified in cortisol-producing adenomas (CPAs). The presence of these mutations in unilateral PA (uPA) patients concurrent with ACS (uPA/ACS) is not well known. This study aimed to investigate the prevalence of these mutations and their clinical vs pathological characteristics in uPA/ACS. DesignThis is a retrospective cohort study. MethodsTotally 98 uPA patients from the Taiwan Primary Aldosteronism Investigation registry having overnight 1-mg dexamethasone suppression test (DST) and adrenalectomy from 2016 to 2018 were enrolled. Their adrenal tumors were tested for PRKACA, GNAS, and CTNNB1 mutations. Results11 patients had CPA-related mutations (7 PRKACA and 4 GNAS). The patients carrying these mutations had higher post-DST cortisol (5.6 vs 2.6 mu g/dL, P = 0.003) and larger adenoma (2.2 +/- 0.3 vs 1.9 +/- 0.7 cm, P = 0.025). Adenomas with these mutations had a higher prevalence of non-classical uPA (72.7% vs 26.3%, P = 0.014). Numerically, slightly more complete clinical success of uPA patients with these mutations was noticed after adrenalectomy, although it was statistically non-significant. Post-DST cortisol levels, adenoma size >1.9 cm, and the interaction of adenoma size >1.9 cm with potassium level were found to be associated with the presence of these mutations. ConclusionOur study showed that CPA-related mutations were detected in 36.7% of uPA/ACS adenomas. The presence of these mutations was associated with higher post-DST cortisol levels, larger adenoma sizes, and a high percentage of non-classical uPA. However, these mutations did not significantly affect the clinical and biochemical outcomes after adrenalectomy of uPA/ACS patients but they showed a better trend.
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