Endocrine Abstracts

Primary aldosteronism (PA) is the most common form of secondary hypertension. In the majority of cases it is caused by unilateral aldosterone producing adenoma (APA) or by bilateral adrenal hyperplasia. Although the majority of cases of PA are sporadic, the disease may occur in the context of familial hyperaldosteronism where it is associated with specific germline mutations. Recent advances in genome technology have improved our understanding on the genetic basis of PA, allow...

Primary aldosteronism (PA) is the most common form of secondary hypertension with an estimated prevalence between 6 and 12% of hypertensives and as high as 20% in patients with resistant hypertension. Among subtypes of PA, the two principal causes are Aldosterone Producing Adenoma (APA) and Bilateral Adrenal Hyperplasia (BAH, also known as idiopathic hyperaldosteronism). Recent evidence has suggested that recurrent somatic mutations of the KCNJ5 gene coding for the potassium c...

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...

We have shown that 5-hydroxytryptamine (5-HT) receptor type 4 (5-HT4R) agonists stimulate aldosterone production in patients with aldosterone-producing adenoma (APA). Moreover, 5-HT-positive cells were observed in APA tissues and 5-HT4R mRNAs were markedly overexpressed in APAs in comparison with normal adrenals. All these results suggested that 5-HT produced by adrenal mast cells could be involved in the physiopathology of APAs. The aim of this work was to investigate the rol...

Background: Cushing’s syndrome, caused by an excess of circulating glucocorticoids, is associated with high morbidity and presents high inter-individual variability. The earlier the diagnosis, the better the treatment effectiveness and the prognosis. Hormone assays, routinely used, contribute to identify Cushing’s syndrome. However, no biomarker is currently available to directly quantify the biological action of glucocorticoids. Blood samples represent an easily obt...

The prolonged exposure to an excess of circulating cortisol (Cushing’s syndrome) causes various complications. An accurate and early diagnosis is critical for effective surgical management and optimal prognosis. However, the current diagnostic approach based on hormonal assays can be complex and requires multiple tests. The identification of novel, specific and easily measurable biomarkers of hypercortisolism may help to improve the diagnosis and to evaluate the complicat...

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...

The effective treatment and optimal prognosis of hypercortisolism (Cushing’s syndrome – CS) depend on accurate and early diagnosis. However, hormonal assays can be complex, requiring multiple tests, and not predictive for any related complications, neither for their duration and severity. Identifying novel, specific and easily measurable biomarkers may improve CS diagnosis as well as the evaluation of complications. Since stress-associated epigenetic markers can be...

Background: Hypertension affects more than 30% of the adult population worldwide and is a major cardiovascular risk factor. Identifying secondary causes of hypertension is key to offering targeted treatment and mitigating adverse health outcomes. We tested the performance of urine steroid metabolomics (USM), the computational analysis of 24-hour urine steroid metabolome data by machine learning, for diagnosing endocrine hypertension.<str...