Abstract Background Recently, somatic beta-catenin mutations (CTNNB1) identified in aldosterone-producing adenomas (APA) from 3 women, were suggested to be responsible for the aberrant overexpression of LHCGR and GNRHR in the APA. Objective To genetically characterize patients with primary aldosteronism (PA) evaluated in vivo for GnRH/LH responsive aldosterone secretion. Method Patients with PA were evaluated in vivo to determine the possible regulation of aldosterone secretion by GnRH or LH. Genetic analysis of the CTNNB1, KCNJ5, ATP1A1, ATP2B3, CACNA1D and GNAS genes were performed in this cohort and a control cohort of PA not tested in vivo for GnRH response. Results We studied 50 patients with confirmed PA including: 36 APA, 12 BMAH, 1 oncocytoma and 1 bilateral hyperplasia (IHA) with co-secretion of cortisol. Among 23 patients tested in vivo for GnRH response of aldosterone: 7 (30,4%) had a positive, 4 (17,4%) a partial and 12 (52,2%) no response. No somatic CTNNB1 mutations were identified, but the disease causing c.451G>C KCNJ5 mutation was found in two individuals with partial and no GnRH responses and an individual showing a positive response to LH. Two additional somatic pathogenic mutations CACNA1D c.776T>A and ATP1A1 c.311T>G were identified in 2 patients with no GnRH responses. In the 26 patients not tested for GnRH response, we identified 2 CTNNB1 (7,7%), 13 KCNJ5 (50%) and 1 CACNA1D (3,8%) mutations. Conclusion Aberrant regulation of aldosterone by GnRH is frequent in PA, but is not often associated with somatic CTNNB1, while it may be found with somatic KCNJ5 mutations. Copyright © 2018 Endocrine Society
Journal of Clinical Endocrinology and Metabolism – Oxford University Press
Published: May 2, 2018
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