Endocrine Abstracts

Dysregulation of sodium-iodide symporter (NIS) function is common in differentiated thyroid cancer, resulting in sub-optimal radioiodide therapy and poorer clinical outcome. Recent developments in identifying proteins that regulate the function of the sodium iodide symporter have highlighted two proteins involved in internalisation of NIS from the plasma membrane: AP-2 and moesin. Clathrin-mediated endocytosis (CME) of NIS is facilitated through the adaptor protein 2 (AP2) com...

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: Primary Aldosteronism is the most common cause of secondary hypertension. First-line treatment; adrenalectomy resects adrenal nodules and adjacent normal tissue, limiting suitability to those who present with unilateral disease. Use of thermal ablation represents an emerging approach as a possible minimally invasive therapy for unilateral and bilateral disease, to target and disrupt hypersecreting aldosterone producing adenomas, while preserving adjacent normal a...

Background: Acromegaly is a rare disorder characterized by excess growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Extended dosing intervals (EDIs) of pharmacological treatments may reduce patient burden and costs compared with standard dosing. This systematic literature review (SLR) investigated treatment of acromegaly at EDIs.Methods: MEDLINE/Embase/the Cochrane Library (2001–June 2021) and key congresses (2018–2021) were searche...

Background: Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objectives: Develop and test the accuracy of a smartphone app which enables families to measure a child’s height at home as a cost-effective alternative to primary care growth monitoring.M...

Heterozygous germline gain-of-function mutations of the extracellular calcium-sensing receptor (CaSR), a G-protein coupled receptor (GPCR), result in autosomal dominant hypocalcaemia type 1 (ADH1), which may cause symptomatic hypocalcaemia with low circulating parathyroid hormone (PTH) concentrations and hypercalciuria. Negative allosteric CaSR modulators, known as calcilytics, rectify the gain-of-function caused by CaSR mutations and are a potential targeted therapy for ADH1....

Stress is increasingly pervasive in modern society and an unavoidable stimulus to the human organism. Stressors, whether of social or physical type, activate the hypothalamic-pituitary-adrenal (HPA) axis, resulting in the upregulation of glucocorticoid levels and, in some cases, its de novo biosynthesis. Aside from HPA axis regulation, corticosteroids also modulate the immune response to inflammation and affect the whole-body metabolism. Accurate quantification of endogenous s...

Introduction: Parathyromatosis is a rare cause of recurrent hyperparathyroidism defined as small nodules of hyperfunctioning parathyroid tissue in the soft tissues of the neck or mediastinum. The most common cause is probably the implantation of parathyroid cells into surrounding tissue during surgery and the risk of parathyromatosis increases with repeated parathyroid surgery. There is an overlap in the histologic features in parathyromatosis, atypical adenoma, and parathyroi...

Introduction: Many people with type 1 diabetes continue to experience suboptimal glycaemic control. We now also know that often HbA1c levels are an inaccurate reflection of glycaemic patterns and variability. We describe here how the systematic use of the FreeStyle Libre flash monitor helped improve the glycaemic control of many people with type 1 diabetes.Methods: We report the outcomes of 92 consecutive adults (18 years of age or more) with type 1 diab...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic and pituitary tumours, and is due to mutations of the MEN1 gene, which encodes menin. We have investigated identical twins with MEN1, one of whom developed primary hyperparathyroidism (PHPT) and a prolactinoma that caused pubertal arrest, and the other had PHPT only. DNA sequence analysis of the MEN1 coding region had not ide...