Endocrine Abstracts

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor that predominantly signals via Gαq/11-mediated pathways to regulate extracellular calcium (Ca2+e) homeostasis. Germline Gα11 inactivating and activating mutations cause familial hypocalciuric hypercalcaemia type-2 (FHH2) and autosomal dominant hypocalcaemia type-2 (ADH2), respectively. To date, four FHH2 and six ADH2 mutations have been reported. To identif...

Gestational diabetes mellitus (GDM) increases fetal morbidity/mortality, and is associated with elevated risks of offspring cardiometabolic disease. These risks are compounded in infants born large for gestational age (LGA) rather than appropriate size (AGA), a common complication of GDM associated with altered placental function. Circulating extracellular vesicle (EV)-associated miRNAs are internalised into the placenta and are emerging as key GDM mediators, with their role i...

Corticotrophinomas represent >10% of all surgically removed pituitary adenomas, which are the most commonly encountered intracranial neoplasms that are identified in >25% of unselected autopsies and approximately 20% of the population undergoing intracranial imaging. Corticotrophinomas are associated with hypersecretion of adrenocorticotropic hormone (ACTH), which leads to excessive production of glucocorticoids by the adrenal cortex and the resulting hypercortisolemia causes ...

Background: Our Paediatric Diabetes service has a challenging rise in proportion of patients with Type 2 Diabetes Mellitus (T2DM); 8.5% of our current cohort; compared to 3.5% regionally and 2.5% nationally (NPDA 2017–2018).Objectives: Establish a T2DM New Diagnosis Pathway and T2DM clinics aiming to achieve HbA1c < 48 mmol/mol for all new patients at 3 months and a year, with 10% weight loss.Methods: Patients diagnosed wi...

Introduction: The FreeStyle Libre is increasingly employed in the management of T1DM. This audit examined if users are meeting the recommended competencies set out in the London prescribing guidelines, to ascertain if users are aware of and utilising inbuilt features of the Libre, to identify if user training can be enhanced, and to see if Libre use improves patients’ quality of life as a result of Libre use.Methods: The audit was conducted via a st...

Medullary Thyroid Cancer (MTC) is sporadic in approximately 75% whilst 25% of MTC occurs as hereditary forms due to RET mutations. Prognosis is relatively good with 10-year survival rates of 65%. However, many patients develop recurrent disease and imaging is critical to localise the site of recurrence. Eighty-eight MTC patients, attending the Royal Marsden Hospital NHS Trust were included in an analysis of overall survival. Median Follow-up duration was 7.5 years (IQR: 4.5&#1...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by occurrence of parathyroid tumours and neuroendocrine tumours (NETs) of the pancreas and pituitary, which is caused by mutations of the MEN1 gene, encoding menin. Mouse models are important in elucidating mechanisms of MEN1 tumourigenesis and treatments, but the current models have limitations. Thus, in conventional heterozygous MEN1 knockout models, tumour d...

Intracellular cortisol is regulated by 11βHSD1. Although the field has focused on regeneration of cortisol from inert cortisone by 11β-reductase activity of 11βHSD1, we have used stable isotope tracers and arteriovenous sampling to quantify simultaneous dehydrogenase (cortisone generation) and reductase (cortisol regeneration) in human adipose and skeletal muscle. In vitro studies suggest insulin regulates this balance of reductase vs dehydrogenase acti...

Objective: To examine the monitoring, management and outcomes of adrenal tumours in pregnancy.Design: A national, prospective observational, cohort study over 4 years using the UK Obstetric Surveillance System (UKOSS).Setting: Consultant led obstetric units.Patients: Women with hormone-secreting adrenal tumours (pheochromocytoma, primary aldosteronism or Cushing’s syndrome) diagnosed before or during pre...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pancreas and pituitary. Reliable biomarkers, ideally in plasma or serum, for the early detection and recurrence of MEN-1 associated tumours, and especially pancreatic NETs are required, and we explored the potential use of microRNAS (miRNAs), which are small non-coding RNAs that bind target mRNAs ...