Endocrine Abstracts

Introduction: Congenital hyperinsulinism (CHI) is a disesase of severe hypoglycaemia, often due to in mutations in ABCC8/KCNJ11. Sirolimus, an mTOR inhibitor, has been reported to be successful in CHI patients, but the evidence is limited. We have aimed (i) to review the efficacy and safety profile of sirolimus, (ii) to assess the role of mTOR signalling pathways in CHI, (iii) to assess the impact of sirolimus in CHI pancreatic tissue.Methods: P...

BackgroundPrimary aldosteronism (PA) constitutes the most common form of hormonal hypertension. However, it is very often misdiagnosed and incorrectly managed. Detection rates are inadequately low and the interpretation of hormonal results is impossible in some patients. Subtype evaluation with its several limitations represents another problematic issue. We describe the cases of two young primary aldosteronism patients with complicated history and a few...

Graves’ disease (GD) is hyperthyroidism associated with organ-specific autoimmune 14 inflammation. GD occurs more frequently in adults than in children, however, pediatric patients are 15 a therapeutic challenge due to cycles of remissions and relapses requiring constant monitoring at 16 every stage of treatment administered. Dendritic cells (DCs) are considered a link between innate 17 and adaptive immunity. DCs as antigen-presenting cells (APCs) are involved in antigen ...

Background: Peptide-receptor-radionuclide-therapy (PRRT) improves progression free survival in metastatic neuroendocrine neoplasia (NEN). To be suitable for PRRT, somatostatin receptor-2 (SSTR2) must be present on tumour site as determined by positive uptake on [68Ga]Ga-DOTA-peptide-PET/CT. LANTana is an ongoing study evaluating whether treatment with the demethylating agent, ASTX727, results in re-expression of SSTR2, as determined by [68Ga]Ga-DOTA-peptide-PE...

Background: McCune Albright syndrome (MAS) is a rare mosaic genetic disorder affecting 1/100 000 to 1/1 000 000 of the population. It arises from a somatic gain-of-function mutation in GNAS gene. The clinical picture is complex and includes fibrous dysplasia (FD), café-au-lait spots, precocious puberty and other hyperactive endocrinopathies. The degree of FGF23 overproduction is correlated with FD severity, and frank hypophosphatemia occurs only in patients with extensive...

Introduction: Primary hyperparathyroidism (PHPT) is a prevalent endocrinopathy typically identified through biochemical testing. PHPT is characterized by hypercalcemia accompanied by increased or inappropriately normal plasma parathyroid hormone (PTH) concentrations. Preoperative imaging is conducted when surgery is indicated to pinpoint parathyroid adenomas. MIBI scintigraphy is highly specific and sensitive in diagnosing PHPT, with a higher adenoma detection rate demonstrate...

Background: Inherited metabolic disorders (IMDs) are a group of heterogenous genetic disorders resulting in substrate accumulation, energy deficiency or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways. The pathophysiological changes seen in IMDs sometimes impact on the endocrine system. We here describe our experience at one UK centre where patients are seen jointly by an...

Introduction: Somatostatin analogues (SSA) are recommended as the first-line systemic therapy, to control tumour growth for advanced or metastatic well-differentiated neuroendocrine tumours (WD NET), with good expression of the somatostatin receptors. [68Ga]Ga-DOTA-SSA PT/CT has become the gold standard in the diagnosis, staging and monitoring therapy, of WD NET.Aim: The aim of the study was to evaluate the predictive role of standardized uptake values (...

Introduction: Hypophysitis is a very rare and heterogenous condition characterized by pituitary inflammation that leads to hypopituitarism, diabetes insipidus and symptoms associated with mass effect such as headaches and visual disturbances. Studies on large groups of patients with hypophysitis are scarce. The aim: We performed an analysis of clinical symptoms, pituitary function, and management of patients diagnosed with hypophysitis.Material and Metho...

Objectives: Phosphatase and tension homolog (PTEN) is a part of signal pathways which are essential for cell proliferation, cell cycle progression, and apoptosis. Variants in the PTEN gene occur in different types of thyroid tumors with unclear diagnostic and prognostic impact. Most variants are somatic, but they can also be germline, which are associated with PTEN hamartoma tumor syndrome (PHTS). PHTS includes Cowden syndrome, which is characterized by hamartomas, an...