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Front. Endocrinol. | doi: 10.3389/fendo.2019.00597

Steroid profiling as an additional tool to confirm one-sided hormone overproduction in primary aldosteronism: a case report.

 Apostolos Chatzitomaris1, 2*, Graeme Eisenhofer3,  Tracy A. Williams4, Otari Worms2, Volkmar Nicolas2, Martin Reincke5 and  Horst H. Klein2
  • 1Ruhr University Bochum, Germany
  • 2BG University Hospital Bergmannsheil GmbH, Germany
  • 3Universitätsklinikum Carl Gustav Carus, Germany
  • 4Division of Medical Genetics, Department of Medical Sciences, School of Medicine, University of Turin, Italy
  • 5Medizinischen Fakultät, Ludwig-Maximilians-Universität München, Germany

Primary aldosteronism (PA) is the leading cause of secondary hypertension. The source of aldosterone hypersecretion is often due to a unilateral aldosterone-producing adenoma, and unilateral laparoscopic adrenalectomy is recommended in such patients. Before surgery, confirmation of unilateral hypersecretion is necessary. This is optimally performed by adrenal venous sampling (AVS). However, AVS is not always successful e.g. due to difficulties in the cannulation of the right adrenal vein. Here we present the case of a 53-year-old female patient with primary aldosteronism, a left-sided adrenal mass and an inconspicuous right adrenal. AVS was performed, but cannulation of the right adrenal vein failed. Therefore, aldosterone hypersecretion also of the right adrenal could not be excluded despite higher aldosterone concentrations in the left renal and adrenal vein. To increase the certainty that the left sided adrenal mass was the source of aldosterone hypersecretion, steroid profiling was performed in a sample from the inferior vena cava. This revealed markedly elevated levels of 18-oxocortisol, 18-hydroxycortisol, 11-deoxycorticosterone and 11-deoxycortisol, a steroid profile that strongly suggested that the left sided adrenal mass was an aldosterone producing adenoma, most likely due to a somatic KCNJ5 mutation. Following unilateral adrenalectomy, CYP11B2 immunohistochemistry and genetics analysis of the resected adrenal confirmed a solitary aldosterone-producing adenoma with intense aldosterone synthase expression, which harbored a previously described KCNJ5 Phe154Cys mutation. Biochemical and clinical cure was confirmed 6 months postoperatively.

Keywords: Primary aldosteronism (PA), Adrenal venous sampling (AVS), somatic kcnj5 mutation, Steroid profiling, aldosterone producing adenoma

Received: 05 May 2019; Accepted: 14 Aug 2019.

Copyright: © 2019 Chatzitomaris, Eisenhofer, Williams, Worms, Nicolas, Reincke and Klein. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Mx. Apostolos Chatzitomaris, Ruhr University Bochum, Bochum, Germany,