SFEEU2023 Society for Endocrinology National Clinical Cases 2023 Oral Communications (10 abstracts)
‘Pseudo-failure’ of adrenal vein sampling due to cortisol co-secretion by KCNJ5-mutant adenoma, and prediction of complete clinical success by urine hybrid steroid assay
Kate Laycock 1,2 , Xilin Wu 1,2 , Emily Goodchild 1,2 , Matthew Matson 1 , Alessandro Prete 3 , Angela Taylor 3 , Wiebke Arlt 3 , Alasdair McIntosh 4 , Alexander McConnachie 4 , Heok Cheow 5 , William Drake 1,2 & Morris Brown 2
1Barts Health, London, United Kingdom. 2Queen Mary University of London, London, United Kingdom. 3University of Birmingham, Birmingham, United Kingdom. 4University of Glasgow, Glasgow, United Kingdom. 5Cambridge University Hospitals, Cambridge, United Kingdom
Case history: A previously well 45-year-old lady presented with a 3-year history of hypertension initially diagnosed at a routine health check. Her blood pressure (BP) was 170-180/90-100 mmHg.
Investigations: Showed hypokalaemia (K+= 3 mmol/l; NR 3.5-5.3 mmol/l), raised aldosterone (976pmol/l; NR 100-500pmol/l) and supressed renin activity (<0.2nmol/l/h), meeting criteria for diagnosing primary aldosteronism (PA). CT adrenals showed a 2.5 cm left adrenal nodule. Her cortisol was unsuppressed (171nmol/l) following dexamethasone 1 mg overnight. ACTH was 8ng/l (NR 0-46ng/l). She was referred to our centre following unsuccessful canulation of her right adrenal vein on adrenal vein sampling (AVS) locally. She was enrolled into the MATCH trial, designed to compare the accuracy of [11C]metomidate positron emission tomography computed tomography (MTO) scanning, with AVS in predicting outcomes of PA after surgery(1). MTO demonstrated a left SUVmax ratio of 1.52 indicating a high probability of unilateral left-sided disease. The ACTH-stimulated AVS found the left adrenal vein was canulated but the selectivity index on the right was 2.6 (threshold >3). Retrospective inspection of the venogram found likely cannulation of both adrenal veins. Her urinary hybrid steroid 18-hydroxycortisol to cortisol ratio was 6.5.
Results and treatment: A left laparascopic adrenalectomy was performed. Post-operatively she was prescribed hydrocortisone and persistent biochemical abnormality led to a year’s treatment with hydrocortisone. Her BP fell to 110/72 mmHg on no treatment and there was correction of electrolytes, aldosterone (226pmol/l) and renin (3.3nmol/l/h). Histology confirmed an aldosterone producing adenoma (APA) and Sanger sequencing of cDNA from tumour and adjacent adrenal found a somatic KCNJ5 mutation, p.Gly151Arg.
Conclusions: Both AVS studies concluded that the right adrenal vein was not cannulated. Her KCNJ5-mutant APA was co-secreting cortisol, as is often the case. It is likely that there was suppression of cortisol secretion from the right gland which led to a reduced cortisol ratio between the right adrenal vein and inferior vena cava. MTO scanning permitted the diagnosis of unilateral PA in this patient. MATCH considered predictors of complete vs partial or absent clinical success following adrenalectomy. In multivariate analysis on genotype, age, sex and ancestry, KCNJ5-genotype was the major independent variable. Furthermore, urine multi-steroid profiling identified higher 18-hydroxycortisol levels in patients with KCNJ5-mutant adenomas, with almost no overlap between them and other patients. Our patient illustrates how adoption of urinary steroid profiles into preoperative workup can select the minority of PA patients most likely to enjoy complete clinical success.1. Wu X.2023. DOI:10.1038/s41591-022-02114-5
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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