• Ada E D Teo, Sumedha Garg, Lalarukh Haris Shaikh, Junhua Zhou, Fiona E Karet Frankl, Mark Gurnell, Lisa Happerfield, Alison Marker, Mariann Bienz, Elena A B Azizan, and Morris J Brown.
• From the Clinical Pharmacology Unit, Centre for Clinical Investigation, Addenbrooke's Hospital, University of Cambridge (A.E.D.T., S.G., L.H.S., J.Z., E.A.B.A., M.J.B.), Department of Medical Genetics, Division of Renal Medicine, University of Cambridge (F.E.K.F.), University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council (MRC) Institute of Metabolic Science, Addenbrooke's Hospital (M.G.), Department of Pathology, Addenbrooke's Hospital (L.H., A.M.), and MRC Laboratory of Molecular Biology (M.B.) - all in Cambridge, United Kingdom; and the Department of Medicine, National University of Malaysia Medical Centre, Kuala Lumpur (E.A.B.A.).
• N. Engl. J. Med. 2015 Oct 8; 373 (15): 142914361429-36.

AbstractRecent discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas with distinct clinical presentations and pathological features. Here we describe three women with hyperaldosteronism, two who presented in pregnancy and one who presented after menopause. Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding β-catenin in the Wnt cell-differentiation pathway, and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more than 100 times as high as the levels in other aldosterone-producing adenomas. The mutations stimulate Wnt activation and cause adrenocortical cells to de-differentiate toward their common adrenal-gonadal precursor cell type. (Funded by grants from the National Institute for Health Research Cambridge Biomedical Research Centre and others.).

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