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Updated: Mar 30, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Genotype-Specific Steroid Profiles Associated With Aldosterone-Producing Adenomas
Tracy Ann Williams1, Mirko Peitzsch2, Anna S Dietz2
1From the Medizinische Klinik und Poliklinik IV (T.A.W., A.S.D., M.B., A.R., Y.R., F.B., M.R.) and Klinische Radiologie (M.T.), Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany; Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy (T.A.W.); Institute of Clinical Chemistry and Laboratory Medicine (M.P., G.E.) and Department of Internal Medicine III (J.W.M.L., G.E.), Technische Universtät Dresden, Dresden, Germany; and Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands (T.D., J.W.M.L., J.D.). Tracy.Williams@med.uni-muenchen.de Martin.Reincke@med.uni-muenchen.de.
A distinct steroid signature in blood plasma can differentiate subtypes of aldosterone-producing adenoma (APA). This finding may help identify patients suitable for adrenal venous sampling, improving primary aldosteronism diagnosis.
Area of Science:
- Endocrinology
- Molecular Genetics
- Clinical Chemistry
Background:
- Primary aldosteronism has two main subtypes: unilateral aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia.
- Somatic KCNJ5 mutations are prevalent in APA, driving aldosterone excess, with other gene mutations occurring less frequently.
Purpose of the Study:
- To identify genotype-specific steroid profiles in adrenal venous (AV) and peripheral venous (PV) plasma from patients with APAs.
- To determine if steroid profiles can differentiate APA genotypes.
Main Methods:
- Analyzed 15 steroids in AV and PV plasma from 79 patients with unilateral primary aldosteronism using liquid chromatography-tandem mass spectrometry.
- Calculated AV sampling lateralization ratios for steroids.
Main Results:
- The hybrid steroid 18-oxocortisol was significantly higher in patients with KCNJ5 mutations.
- A distinct steroid signature differentiated APA genotypes in both AV and PV plasma.
- A 7-steroid fingerprint in PV plasma correctly classified 92% of APAs by genotype.
Conclusions:
- Steroid fingerprinting in plasma can differentiate APA genotypes.
- This approach may help select patients for adrenal venous sampling, potentially streamlining the diagnosis of primary aldosteronism.
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