Endocrine Abstracts

Introduction: Primary aldosteronism (PA) occurs due to an excess production of aldosterone in the adrenal glands, resulting in low renin levels and hypertension. Familial hyperaldosteronism is considered to be a relatively rare disorder, with only a small number of genes having been implicated so far. The aim of the present study is to identify the molecular cause of disease in a PA family, as well as examining the mechanisms in an in vitro setting.<p class="abste...

Primary aldosteronism caused by aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia is the most prevalent cause of secondary hypertension. Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 have been shown to be involved in the formation of APA. We studied the immunoexpressions of CYP11B2 and HSD3B2, the rate-limiting enzyme for aldosterone production and the prevalent isoform of β-HSD found in APA respectively, and...

Background: Sporadic aldosterone-producing adenomas (APA) are relevant cause of endocrine related hypertension in Primary Aldosteronism (PA). Next generation sequencing techniques have identified somatic mutations in APA harbored in KCNJ5, ATP1A1, ATP2B3, CACNA1D, CTNNB1 and PRKACA genes. Yet, a number of APA harbor no mutations in candidate genes (designated as wild type, WT) and little is known about genotype/phenotype correlation.Objectives: We invest...

Aldosterone-producing adenomas (APAs) are the most frequent cause of primary aldosteronism (PA). Somatic mutations of KCNJ5, ATP1A1, CACNA1D and ATP2B3 are involved in APAs formation while CTNNB1 and GNAS somatic mutations have been described in both APAs and in cortisol-producing adenomas (CPAs). In contrast, mutations of PRKACA coding for the catalytic subunit of protein kinase A have been yet only identified in ...