Endocrine Abstracts

Introduction: (Anti-TNF-α) therapy is widely used for the treatment of inflammatory diseases. The most frequent adverse events induced by anti-TNF-α therapy are infections and malignancies. However, reports of paradoxical sarcoidosis-like reactions are on the rise in patients receiving anti-TNF-α.Clinical case: A 61-year old woman, with a medical history of sero-positive rheumatoid arthritis on Adalimumab treatment (anti-TNF-α), was r...

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...

Endocrine-Related Cancer 2014 21 567–577. DOI: 10.1530/ERC-14-0254...

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RIα (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...

Implementation strategies for the elimination of iodine deficiency in the last 10 years in Belarus has achieved the WHO evaluation criteria. This was made possible by the universal use of iodized salt in food manufacturing, food service of all types and the availability of its free-trade network salt addition.The aim of this work was to study the iodine daily intake from food, as one of the measures to monitor iodine supply of the population.<p class...

Background Undetected multiglandular disease (MGD) is a leading cause of persistent primary hyperparathyroidism after surgical treatment. There is still a number of clinically significant parathyroid adenomas that remain unseen preoperatively.Materials and methods A retrospective cohort study was conducted in order to reveal factors associated with risk of MGD. 810 cases of pHPT patients who had received primary surgical treatment at SPBU Hospital in 201...

Background: Bethesda IV is the most common indication for thyroid surgery. As histological verification is the only 100% certain method of confirming malignancy, surgery remains the gold standard for FN treatment. Most cases of FN malignancy are variants of papillary thyroid cancer that require active surveillance alone in nodules sized less than 2 cm.Materials: A continuous cohort of 4399 patients who underwent surgery at SPbU_Hospital in the years 2020...

The calcium-sensing receptor (CaSR) belongs to family C of G-protein coupled receptors (GPCRs) that bind glutamate, GABA, taste molecules and pheromones. Loss-of-function mutations of the CASR gene located on chromosome 3q21–24, cause familial benign hypocalciuric hypercalcaemia type 1 (FBHH1). The genes causing FBHH2 and FBHH3, whose chromosomal locations are on 19p and 19q13.3, respectively, remain unknown. FBHH3, sometimes called the Oklahoma variant (FBHHO...

ApoB isoforms are components of the chylomicron, and of the atherogenic LDL and Lp(a) particles. Ex26 is exceptionally long at 7.57kb as most exons are <500bp. Ex26 is also the site of RNA editing, which generates the ApoB48 isoform instead of ApoB100. The first 3kb of ex26 contains 15 sequences matching the splice site consensus, which could be used in splicing, but are not. Splice sites matching the consensus but which are not used are called pseudosites. How the spliceos...

Introduction: Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of Cushing syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 have been described by our group 10 years ago and are responsible for 20-25% of apparently sporadic BMAD cases and 80% of familial presentations. ARMC5 patients present with a more pronounced phenotype than wild-type patients, in terms of cortisol ...