Endocrine Abstracts

Arterial hypertension is a major cardiovascular risk factor. Detection of secondary forms of hypertension is key to targeted management and prevention of cardiovascular complications. Primary aldosteronism (PA) is the most common and curable form of secondary arterial hypertension and has an estimated prevalence of ~10% in referred patients and 5% in primary care. PA results from autonomous aldosterone production from the adrenal cortex, caused in the majority of cases by a un...

Introduction: Primary aldosteronism (PA) is the most frequent form of secondary hypertension. Over the past 10 years, important discoveries have been made regarding the genetic basis of aldosterone producing adenoma and familial forms of primary aldosteronism. In most cases, genetic abnormalities are found in genes coding for ion channels (KCNJ5, CACNA1D, CACNA1H, CLCN2) and pumps (ATP1A1, ATP2B3). These mutations affect intracellular ion homeostasis and/or c...

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D have been described in 50% of aldosterone producing adenomas (APA). To identify genetic alterations in new genes, we performed whole exome sequencing in 23 patients with APA negative for recurrent mutations in known driver genes. A low number of somatic variations were identified per patient, ranging from 1 to 22. N...

Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenoma (APA). Although the role of these mutations in regulating aldosterone biosynthesis has been clearly established, the mechanisms involved in proliferation and APA formation still remain to be elucidated. The aim of our study was to identify pathways involved in adrenal cortex nodulation and APA formation.Transcriptomic a...