Endocrine Abstracts

Background & objectives: There are multiple forms of functional TSHR autoantibodies which stimulate or inhibit the thyroid. The TSH-Receptor blocking antibody (TSBAb) exists in the serum of Graves’ disease, which is functionally different from TSH receptor stimulating antibody (TSAb). TSBAb that blocks the action of TSH is also associated with idiopathic myxedema and some Hashimoto’s disease. We measured TSBAb levels and evaluated the pathogenetic significance of...

Background: Primary Aldosteronism (PA) is the commonest curable cause of hypertension. Whole exome sequencing (WES) of an aldosterone producing adenoma from a 46-year-old man with resistant hypertension revealed a novel somatic mutation (Val380Asp) of the single transmembrane domain of Cell Adhesion Molecule-1 (CADM1). A Gly379Asp mutation was identified by WES of a PA patient in Munich. Both patients were cured of hypertension by adrenalectomy.Method: A...

Background: PA is the commonest curable cause of hypertension. Whole exome sequencing (WES) in 2011 and 2013 identified common somatic mutations in genes regulating membrane polarisation in 60-80% of aldosterone-producing adenomas (APA). In search of the missing variants, we undertook further WES. One APA from a 46-year-old gentleman revealed a novel somatic mutation (Val380Asp); which introduced a charged amino-acid into the single transmembrane domain of Cell Adhesion Molecu...