Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.

This is a metadata record relating to an article that cannot be shared due to publisher copyright.Recent 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.).AEDT is supported by Agency for Science, Technology and Research (A*STAR) Singapore and the Wellcome Trust (085686/Z/08/A); SG and LHS are supported by the British Heart Foundation (FS/14/75/31134; FS/11/35/28871); EABA was supported by the Tunku Abdul Rahman Centenary Fund (St Catharine's College, Cambridge, UK) and the Austin Doyle Award (Servier Australia). JZ was supported by the Cambridge Overseas Trust Scholarship. MG is supported by the NIHR Cambridge Biomedical Research Centre (Metabolic), and MB is supported by the MRC (U105192713). The work was funded by the NIHR Cambridge Biomedical Research Centre (Cardiovascular) and an NIHR Senior Investigator award (NF-SI-0512-10052) to MJB