Endocrine Abstracts

The calcium-sensing receptor (CaSR) plays a central role in regulating parathyroid hormone (PTH) secretion in response to changes in extracellular calcium. The CaSR is a G-protein-coupled receptor and ligand binding results in stimulation of phospholipase C (PLC) activity, causing accumulation of inositol 1,4,5-triphosphate (IP3) and the rapid release of calcium ions from intracellular stores. Given the pivotal role of the CaSR in calcium homeostasis, we decided to ...

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...

Kidney stone disease (KSD) is a recurrent condition with limited prophylactic therapies. This study aimed to use Mendelian randomisation (MR) and colocalization analyses to identify novel drug targets for KSD. Utilising UK Biobank genome-wide association study data for MR, we identified forty-nine 1Mbp regions where genetic loci increase risk of KSD via effects on albumin-adjusted serum calcium or phosphate concentrations. Multi-trait statistical colocalization analyses identi...

The prevalence of type 2 diabetes (non-insulin dependent diabetes) has been universally acknowledged as a chronic public health concern and the leading cause of mortality on a global scale. Plant-based bioactive compounds have made significant contributions to the management of diabetes mellitus globally. Artocarpus heterophyllus, also known as “kathal” in the subcontinent, is rich in dietary fibre and has traditionally been used as a diabetes remedy. The current stu...

Over 700 patients with known adrenal insufficiency are treated across the trust. Whilst unwell or fasting for a procedure, these patients potentially risk suffering an adrenal crisis. A flagging system has already been implemented on the electronic patient records (EPR) which identifies patients who are ‘on replacement Hydrocortisone’. Following an inpatient adrenal crisis which could have been more optimally managed, we sought to highlight care of this vulnerable co...

Somatostatin analogues (SSAs) are regularly used in the treatment of neuroendocrine tumours (NETs) to control the symptoms of hormonal hypersecretion. Evidence shows that SSAs can reduce tumour progression, and are therefore also being used in patients with non-functioning tumours. As many NETs present with advanced disease curative therapy is often not possible; therefore, assessing the impact of therapy on quality of life (QoL) is vital to patient management. This is particu...

Background: Management of pituitary conditions is notoriously difficult and patients often experience high levels of distress which are often not addressed by health professionals. As a result, pituitary conditions have been found to have a large negative impact on quality of life. The aims of this study were 1) to identify the psychosocial symptoms associated with pituitary conditions, and 2) to identify any differences in symptomatology...

Background: Pituitary conditions have been found to have a significant impact on quality of life. As such it is important that patients have access to support services to ensure their ongoing physical and psychological needs are met. The aim of this study was to explore the experiences of patients with pituitary conditions who are members of the Pituitary Foundation to better understand how the Foundation supports their needs.<p class...

Idiopathic intracranial hypertension (IIH) is a condition characterised by raised intracranial pressure (ICP) that primarily affects obese women of reproductive age. The aetiology is poorly understood but involves imbalance of cerebrospinal fluid (CSF) secretion and absorption. IIH patients share similar phenotypic characteristics to PCOS patients, a condition with a distinct androgen signature. We hypothesise that obesity and androgen excess maybe...

Background: Management of pituitary conditions is notoriously difficult and patients often experience high levels of distress which are often not addressed by health professionals. As a result, pituitary conditions have been found to have a large negative impact on quality of life. The aims of this study were 1) to identify the psychosocial symptoms associated with pituitary conditions, and 2) to identify any differences in symptomatology...