Endocrine Abstracts

Background: Current guidelines recommend adrenal vein sampling (AVS) for the identification of surgically treatable unilateral disease among patients with primary aldosteronism (PA). The cortisol-derived selectivity index (SI) is currently used to assess the success (or selectivity) of adrenal vein catheterization during AVS. However, AVS studies can be non-selective in many cases.Aim: To examine whether the use of SI derived either from 11-deoxycortisol...

Background: Confirmation of primary aldosteronism (PA) with the saline infusion test (SIT) requires accurate measurements of plasma aldosterone, best achieved by mass spectrometry. Performance of the test and appropriate cut-offs remain inadequately defined.Design and methods: This prospective multicenter cohort study involved 451 patients with suspected PA who underwent a seated SIT. Among these, there were 90 and 76 in whom PA was respectively confirmed and excluded based on...

Background: Diagnostic stratification of patients with suspected primary aldosteronism (PA) is a multistep process reliant on tests that are not infallible. Only through prospective studies can diagnostic accuracy be appropriately assessed.Methods: The PROSALDO trial enrolled 819 patients between 2019 and 2023 to assess steroid profiles against routine tests for diagnostic stratification. A combination of these tests and outcome assessments, including me...

Manuel Tena-Sempere, Spain AbstractThe European Journal of Endocrinology Prize is awarded to a candidate who has significantly contributed to the advancement of the knowledge in the field of endocrinology through publication. This year's recipient is Professor Manuel Tena-Sempere. The prize will be presented as part of the ECE 2011 opening ceremony where Prof. Tena-Sempere will deliver his lectu...

Background: A testicular adrenal rest tumor in an adult males who complaint with testicular enlargement and fertility request, and diagnosed with congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency with homozygous mutation L299P in the CYP11B1 gene and accompanied by impaired spermatogenesis and Leydig cell failure was reported.Case Report: A 27-year-old man was complaint with bilateral progressive painful enlargement of the testes, cont...

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

Hypophosphatemic rickets is an X-linked dominant inherited bone disorder, characterized by renal phosphate wasting, inappropriately normal to low vitamin D serum levels and severe skeletal and dental defects from early childhood. Inactivating mutations in the PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X-chromosome) have been identified as the underlying cause, although the pathomechanism is unknown. The PHEX gene encodes a membrane-bound meta...

Metabolic (dysregulation)-associated fatty liver disease (MAFLD) is the main cause of liver dysfunction, showing a prevalence of 20-30% in the general population and 57-74% among patients with obesity. MAFLD comprises a spectrum of chronic liver diseases, ranging from simple hepatic steatosis to non-alcoholic steatohepatitis or NASH, which can lead to advanced fibrosis and cirrhosis, increasing the risk of hepatocellular carcinoma (HCC). HCC is the most frequent, heterogeneous...

Partial inhibition of PI3K is one of the best-validated and evolutionary conserved manipulations to extend longevity. PI3K is a master regulator of anabolism and the best validated beneficial effects of reduced PI3K are related to metabolism and include increased energy expenditure, reduced nutrient storage, and protection from obesity. We have found that a dual chemical inhibitor of the α and δ PI3K isoforms (CNIO-PI3Ki) reduces obesity in mice and monkeys, without ...

Transsphenoidal surgery is the treatment of choice for acromegaly. Cure is defined by normalization of age-related IGF1 and sufficient suppression of GH in the oral glucose tolerance test (OGTT). We investigated, if early postoperative hormone testing gives reliable information whether complete resection of a tumor was achieved and compared these findings with further follow-up data.So far, 22 patients underwent OGTT within a week after surgery, starting...