Endocrine Abstracts

We describe a 68 year lady who was found to have bilateral adrenal masses (7 cm on the right side and 1.3 cm on the left) during investigations for gastrointestinal symptoms, in early 2016. Biochemistry revealed high urinary normetanephrines of 41.7pmol/24h (ref 0–3) and metanephrines of 40pmol/24h (ref 0–1.8). A PET and MIBG scan revealed uptake in both adrenals and therefore a diagnosis of bilateral phaeochromocytoma was made. The patient had complained of occasion...

Rapid diagnosis and treatment of Cushing’s syndrome (CS) is essential for good outcomes. Current standards for appropriate timelines for referral are under review by NHSE. Data are required to substantiate standard setting. Knowledge of current referral pathways/processes are required to explore delays in accessing definitive surgical treatment. An audit of referral processes at Queen Elizabeth Hospital Birmingham was undertaken and further expanded to 4 additional tertia...

Background: Newer biological drugs such as immune checkpoint inhibitors (ICI) have recently revolutionized cancer therapy. However, hypophysitis and adrenalitis are recognized side-effects of these new therapies. Hypothalamus pituitary adrenal (HPA) axis dysfunction is associated with serious morbidity and mortality. This study aimed to monitor whether the ICI related HPA axis dysfunction recovers.Materials and Methods: We have conducted a retrospective ...

Introduction: Radiotherapy is an important adjuvant treatment for pituitary and cranial diseases. The aim of the study was to observe response of Radiotherapy (RTX) on Hypothalamic–Pituitary–Adrenal (HPA) axis determined by serial Short Synacthen tests (SSTs). Methods: Patients treated with adjuvant Cranial Radiotherapy between the years 2000 and 2018 in the department of Radiation Oncology and who also underwent serial Short Synacthen tests, i...

Introduction: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (M...

Advances in molecular genetics revealed various causes for neonatal diabetes (ND) Wider clinical awareness led to recognition of different phenotypes. In areas like the Gulf, it is expected that the incidence of ND to be higher due to the high frequency of consanguinity. The different ethnic background might result in different causes and phenotypes of ND compared to data reported from the west.We report 19 patients from 11 families with ND. All patients...

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

We report potential effects of antituberculosis (TB) treatment on vitamin D metabolism in the immediate postoperative period following total thyroidectomy.A 50-year woman of Chinese origin was incidentally found to have papillary thyroid carcinoma with local nodal metastasis following FDG–PET imaging done to assess nature of lung nodules on chest X-ray and CT chest. The nature of lung lesion was uncertain and commenced on empirical TB treatment (fou...

Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...