LAUSR

OBJECTIVE Concurrent autonomous cortisol secretion(ACS) in patients with primary aldosteronism(PA) was 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 versus pathological characteristics in uPA/ACS. DESIGN Retrospective cohort study. METHODS 98 uPA patients among the TAIPAI registry having overnight 1-mg dexamethasone suppression test(DST) and adrenalectomy from 2016-2018 were enrolled. Their adrenal tumors were tested for PRKACA, GNAS, and CTNNB1 mutations. RESULTS 11 patients had CPA-related mutations (7 PRKACA and 4 GNAS). The patients carrying these mutations had higher post-DST cortisol (5.6 versus. 2.6 μg/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 >1.9cm, and the interaction of adenoma size >1.9cm with potassium level were found to be associated with the presence of these mutations. CONCLUSION Our 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 clinical and biochemical outcomes after adrenalectomy of uPA/ACS patients but they showed a better trend.