Endocrine Abstracts

The usefulness of long-term medical treatment with somatostatin analogs has not been evaluated in insulinomas. 22 patients with hypoglycaemia related to endogenous hyperinsulinism (62±21 years, M±S.D., 27–88 years) were not treated by surgery: aged patients (n=10), patients with malignant unresectable insulinomas (n=6; locally invasive, n=1; multimetastatic, n=5), multiple insulinomas (n=2), diffuse beta cell pat...

A 42 year-old man presented in 1994 with a two-week history of headaches, drowsiness and confusion. There had been reduced libido and weight gain for 2 years. There was testicular atrophy and morbid obesity, but no neurological abnormality. CT scan showed a large, partially calcified, suprasellar tumour extending up into the third ventricle. Downward displacement of the posterior clinoid was identified with features of haemorrhage peripherally. MRI scan showed tumour of mixed ...

Background: Type III hyperlipidaemia (T3HL) is characterised by equimolar increases in plasma triglyceride and cholesterol on an APOE2/2 genotype background and conveys a high risk of early-onset cardiovascular disease (CVD). Phenotypic penetrance of T3HL is <10% and precipitated by several endocrine/metabolic disorders such as obesity, diabetes and hypothyroidism. We explored the effect of triglyceride-raising polygenic score precipitating T3HL, in the context of...

The primary cilium, a non-motile microtubule-based organelle protruding from most vertebrate cells, serves as a specialized compartment for signal transduction. Any disruption of ciliogenesis leads to ciliopathy-spectrum disorder with multiple signalling failure in development and homeostasis. Several ciliopathies including Bardet–Biedl syndrome associate with infertility and hormone imbalances, but the role of primary cilia in reproductive disorders is not clear. Congeni...

Introduction: UK guidelines state that all patients undergoing adrenalectomy for phaeochromocytoma must be admitted to intensive care post-operatively due to the risk of haemodynamic instability (HDI). Intensive care beds are a scarce resource and it is important to regularly evaluate the need for admission, preventing unnecessary admission.Methods: The study population included all patients who underwent adrenalectomy for phaeochromocytoma at a UK terti...

Introduction: The prenatal treatment of Congenital Adrenal Hyperplasia (CAH) with Dexamethasone (Dex) is effective at minimising virilisation in affected females. Treatment is initiated with Dex at 20 mcg/kg per day (max 1.5 mg/day) as soon as pregnancy is confirmed and continued to term in affected females only. There are concerns regarding neurocognitive difficulties in children exposed to prenatal Dex, but no reports of late intra-uterine deaths (IUD) attributed to prenatal...

Background: Screening for primary aldosteronism (PA) using the aldosterone to renin ratio (ARR) is recommended by clinical practice guidelines in patient groups with a high prevalence as the disease is reported by several authors in more than 10% of essential hypertensives (EH).Methods: Plasma aldosterone concentration (PAC) and direct renin (DR) were measured using two novel automated chemiluminescence assays (IDS-iSYS; Boldon, UK) and compared to the S...

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...

Accelerated medial calcification is a major cause of premature cardiovascular mortality in people with chronic kidney disease. Evidence suggests that the concentration of extracellular Ca2+ and vascular smooth muscle cells play a pivotal role in the pathogenesis of vascular calcification. Extracellular Ca2+ is detected by the calcium-sensing receptor (CaSR). The CaSR is a G protein-coupled receptor that is expressed in a range of tissues, but characteriza...

Adrenocortical carcinoma (ACC) is a rare and highly malignant tumour with a poor prognosis with an incidence of 1 – 2 per million population per year. We report 2 cases of functioning ACC.Case 1: An 80 yr old with a history of hypertension, paroxysmal atrial fibrillation and cerebrovascular disease presented with leg ulcers, peripheral oedema, tiredness, weight gain, plethora and proximal myopathy. ACTH-independent Cushing’s syndrome was confir...