Endocrine Abstracts

Background: PWS is a rare neurodevelopmental genetic disorder characterized by hyperphagia, obesity, hormonal deficiencies, and problem behaviors for which there are no approved treatment. DCCR administration (100-525 mg/day) up to 52 weeks in participants with PWS improved hyperphagia, behavior, body composition and metabolic markers.Objective: The objective of this study was to compare changes in hyperphagia (using Hyperphagia Questionnaire for Clinica...

Background: Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved medications to treat hyperphagia in patients with PWS; DCCR is under development as a treatment for PWS.Objectives and Methods: The objective was to evaluate long-term safety of DCCR in individuals with PWS. 125 parti...

Glucocorticoid (GC) signalling via the glucocorticoid receptor (GR) is essential for normal lung development. Previous work using conditional mouse knockouts of the GR gene established that GR activity in the mesenchymal compartment of the lung is critical for normal respiratory development. Screens for GC-target genes with conditional mesenchymal GR deficient mouse lung (GRmeskO) identified Versican (Vcan), an important extracellular matrix (ECM) component and cell proliferat...

Primary hyperaldosteronism usually results from an aldosterone-secreting adenoma of the adrenal cortex (Conn’s adenoma) or bilateral adrenal hyperplasia. Identification of the anatomical adrenal lesion causing hyperaldosteronism typically involves CT or MR scanning, with lateralisation of aldosterone production confirmed by adrenal vein sampling (AVS). The latter is a technically difficult and invasive procedure, but current non-invasive alternatives (e.g. radiolabelled i...

Subcutaneous fat necrosis (ScFN) of the newborn is an uncommon self-limiting panniculitis, often associated with a complicated delivery. Hypercalcaemia can be a major complication, usually occurring within the first 6 months of birth and this may result in irritability, constipation, nephrocalcinosis, seizures and sometimes even death. Treatment options are variable with a number of different regimens including intravenous fluids, loop diuretics, prednisolone and bisphosphonat...

Introduction: Adverse drug reactions (ADRs) are a significant cause of morbidity in childhood. We undertook a prospective study to investigate ADRs causing admission to a UK paediatric hospital: this report focuses on corticosteroids (CS).Methods: Three investigators assessed all acute admissions over a 1 year period and identified ADRs by cross-referencing clinical presentations to known ADR profiles using a standardised causality tool.<p class="abs...

Background: Previous studies have reported that increased BMI and increase in insulin requirement are associated with more rapid disease progression following diagnosis in type 1 diabetes mellitus (T1DM). The recent UK National Paediatric Diabetes Audit (NPDA) 2013/14 reported that 37% of 0–11 year old children and 44% of 12 years and older children are currently overweight or obese.Objective: Our objective was to evaluate factors associated with in...

Introduction: Our endocrine service introduced a nurse led parathyroid clinic to provide an efficient pathway for patients referred with hypercalcaemia.This benefits patients and clinical staff.Materials/Methods: Patients referred with a raised calcium level are vetted by the endocrine consultants and directed to the nurse led clinic. The patients are seen within 6 weeks using a standard proforma and checklist. Relevant investigations to include renal fu...

Background: Vitamin D deficiency in pregnancy is a growing public concern amongst ethnic minority groups in the UK. This is related to both skin colour and clothing.Aim: To investigate vitamin D status in four ethnic groups in an inner city obstetric practice. This was part of an ongoing study of vitamin D deficiency and supplementation in pregnancy.Subjects: Women from St Mary’s Hospital, London were recruited at 28 weeks ges...

Background: Early glycaemic control improves long-term outcomes in children with Type I diabetes. The NICE target for children with T1DM is HbA1c ≤ 48 mmol/mol. 2018 data from our newly diagnosed patients (pre-QI) demonstrated mean HbA1c 50 mmol/mol at 3 months and 62 mmol/mol at 12 months.Aims and methods: Our aim is to improve average blood glucose levels at day 28 post diagnosis and achieve a median HbA1c of <48 mmol/mol at 3 and 12 months p...