Endocrine Abstracts

Introduction: Diabetes has been associated with poorer outcomes with COVID-19 infection, but precise predictors of mortality in patients with diabetes remain unclear. We assessed predictors of adverse outcomes in patients hospitalised with COVID-19 in Imperial College Healthcare NHS Trust (ICHNT) hospitals during the first and second waves of COVID-19 to determine if outcomes for patients with diabetes have evolved with new variants and treatments.Method...

Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH)2D3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH)2D3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presente...

Introduction: Body composition is gaining great interest in some pathologies such as Type 1 Diabetes Mellitus (DM1). Adherence to the Mediterranean diet has been shown to be effective in improving the prognosis of cardiovascular disease, which is the main cause of mortality in these patients.Objectives: To assess whether adherence to the Mediterranean diet in DM1 is associated with improvement in disease control parameters, body composition, anthropometr...

Introduction and Objectives: Poor metabolic control in Type 1 Diabetes Mellitus (DM 1) is associated with micro and macrovascular complications. The implementation of interstitial glucose monitoring systems has contributed to improving glycemic control in recent years. Our objective was to know the metabolic control in people with type 1 DM and the Flash system and to establish if there is an association between its use and glycemic control variables.Mat...

Regulators are concerned about the potential for environmental chemicals such as agrochemicals and their metabolites to perturb hormone systems. This has led to recommendations for the testing of potential endocrine disrupting chemicals1. The Steroidogenesis H295R assay is an in vitro cell model used to investigate compound effects on steroid hormone biosynthesis, specifically 17β-estradiol (E2) and testosterone (T). The human H295R adreno-carcinoma ce...

Case history: An 18 year old male student presented to the dentist with an eight week history of left-sided facial pain and swelling. He was subsequently referred to the maxillofacial team. His only previous medical encounter was for a traumatic right humerus fracture following a roller-skating injury. He took no regular medication. His father died of an unknown malignant process several years previous and family history was otherwise unremarkable. On questioning, the patient ...

Background: Islet transplant into the liver is a therapy for type 1 diabetes patients experiencing severe hypoglycaemia or impaired hypoglycaemic awareness. Widespread use is not currently considered due to the requirement for immunosuppression for the lifetime of the graft, and the attrition in graft function over the following 1-5 years. Following transplant into the liver, inflammation results in >60% islet loss, with few patients achieving insulin independence. The liv...

Background: The optimal therapy sequencing for metastatic neuroendocrine tumors (NETs) remains undefined. Recent advances in systemic therapies may have changed approaches. Better understanding in patterns of care is necessary to assess and design treatment strategies. We examined the use of factors associated with liver-directed therapy over time.Methods: We conducted a population-based study of metastatic NETs over 2000-2019. Outcomes were use of liver...

Adrenocortical carcinoma (ACC) is a rare endocrine malignancy presenting with an incidence of 1 per million per year and an overall 5-year survival rate under 35%. Currently, curative treatment is limited to full surgical resection, while the adrenolytic drug mitotane remains the only approved medical therapy option leaving a huge demand for innovative therapeutic strategies. Genetic alterations observed in ACC commonly lead to activation of Wnt/β-Catenin signaling most f...

Familial hypocalciuric hypercalcaemia (FHH) comprises three genetic variants: FHH types 1 and 2 are due to mutations of the calcium-sensing receptor (CaSR) and G-protein subunit alpha-11, whereas, FHH type 3 (FHH3) is caused by heterozygous mutations affecting the Arg15 residue (Arg15Cys, Arg15His, Arg15Leu) of the adaptor-related protein complex 2-sigma subunit (AP2S1), which regulates CaSR endocytosis. FHH is usually associated with mild hypercalcaemia, normal parathyroid ho...