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...

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 ...

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...

Background: Cyclical Cushing’s syndrome has been considered to be a rare clinical entity, characterised by periodic increases in cortisol levels followed by regression of the Cushing’s syndrome. The cycles of hypercortisolism may occur before the establishment of the diagnosis, rendering actual diagnosis difficult, or may occur after inadequate or ineffective treatment and affect disease management. The aim of this study was to investigate the prevalence of cyclicity...

Objective: To review the diagnostic features and localization accuracy of different investigations for insulinomas diagnosed 1990–2009 at a single tertiary referral centre.Design: A cross-sectional, restrospective analysis, including sporadic tumours and those in multiple endocrine neoplasia syndromes.Methods: Case notes and investigation results were reviewed from patients with biochemically or histologically-proven insulinom...

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....