Endocrine Abstracts

Introduction: There are two isoforms of the insulin receptor (IR), generated by the alternative splicing of exon 11 to give IR-A (exon 11-) and IR-B (exon 11+) isoforms. The differing distribution and function of the isoforms has been postulated to play a role in the pathogenesis of diabetes mellitus, myotonic dystrophy and thyroid carcinoma. Previous work investigating IR alternative splicing has identified hormonal factors, splicing elements and factors which modulate the re...

Cinacalcet is a calcimimetic agent licensed for the treatment of secondary hyperparathyroidism and parathyroid carcinoma. Multiple endocrine neoplasia type 1 (MEN1) patients may benefit considerably from cinacalcet. Affected patients have hyperplasia of multiple parathyroid glands, rather than a single resectable adenoma. Surgical cure requires removal of all parathyroid tissue, which is often unsuccessful, resulting in multiple neck explorations and hypoparathyroidism. Cinaca...

Background: Apolipoprotein B (APOB) is an integral part of the LDL, VLDL, IDL, Lp(a) and chylomicron lipoprotein particles. The APOB pre-mRNA consists of 29 constitutively-spliced exons. APOB exists as two natural isoforms: the full-length APOB100 isoform, assembled into LDL, VLDL, IDL and Lp(a) and secreted by the liver in humans; and the C-terminal truncation APOB48, assembled into chylomicrons and secreted by the intestine in humans. Down-regulation of ...

Performing water deprivation test (WDT) and prolonged water deprivation test (PWDT) is some of the roles undertaken by endocrine nurse in specialist endocrine units. These tests need to be done in a safe and control environment.Objectives: To provide safe information to patients to avoid fluids overload when they arrive for the tests. Can the specialist endocrine nurse make clinical decision to terminate the test base on clinical evidence and at what poi...

Objective: (1) To review normative data for catecholamines using our cohort of hyperaldosteronism patients undergoing adrenal vein sampling. This adds to the previously published data of normative values in a cohort of patients with cortisol-producing adenoma. (2) To demonstrate the usefulness of the noradrenaline to adrenaline ratio in the interpretation of adrenal venous sampling results.Design: 38 patients underwent successful, bilateral adrenal venou...

Background: Up to a third of subjects who develop a phaeochromocytoma or a paraganglioma will do so as the result of mutations in one of several familial genes. Identifying a causative mutation may have significant implications for family screening and future disease surveillance.Objective: To review the frequency and type of genetic testing undertaken in subjects presenting to our unit over a 20-year period who have developed a phaeochromocytoma and/or ...

Insulin Tolerance Test (ITT) is a procedure commonly done by Endocrine Specialist Nurse in endocrine department. We look at over 120 ITT results done in 2 endocrine centres using Insulin Actrapid 0.15 UNITS/kg and 0.10 UNITS/kg dose plotting the glucose levels at 30, 45 and 60 min. We also look at peak GH and peak cortisol on each of these groups.Aims: We wanted to know how many percentage of patients achieving hypoglycaemia below 0.5 mmol/l, 0.5–1....

Introduction: Bone mineral density (BMD) and fracture tendency are influenced by diet, activity, drugs, and hormones. Recent studies highlight an inverse relationship between serotonin and BMD, of uncertain mechanism.Purpose: We investigated the relationship between serotonin metabolites and BMD in patients with sporadic neuroendocrine tumours (NETs), with and without the carcinoid syndrome.Materials and methods: One-year prospecti...

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...

Introduction: Hypercortisolaemia is characterised by an increased risk of cardiovascular disease (CVD), either through a direct action on the myocardium or by affecting traditional cardiovascular risk factors. The electrocardiogram (ECG) is the initial examination to assess the structural and functional characteristics of the myocardium.Aim of the study: To investigate whether the metabolic and cardiovascular features of Cushing’s disease (CD) are a...