Endocrine Abstracts

Background: Glucolipotoxicity contributes to declining B-cell function and acceleration of type 2 diabetes (T2DM). Intensive insulin therapy has been shown to rapidly reverse glucolipotoxicity and improve B-cell function, particularly if given soon after diagnosis. Recent trials in adults have shown promise, with 50% in remission at 1 year after intensive insulin therapy.Methods: We report 4 cases of young people with T2DM treated with intravenous insuli...

Clinical trials of multiple dose insulin (MDI) or pump therapy (CSII) suggest a short term effect with a waning of effect over time – the ‘Hawthorn Effect’. This may relate to interest in the patient during the trial or to lack of reinforcement of the education and training programme. We reviewed our experience in this area where we have used a structured education programme for CSII and MDI over the last 6–8 years and used Quality Control Theory to explore...

Introduction: A number of different parameters are used to assess adequacy of treatment in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hydrocortisone day curves are established practice in our unit. To determine the value of this procedure, outcomes were monitored using the European Society for Paediatric Endocrinology 2002 guidelines for the management of 21-hydroxylase deficiency.Methods: Two hourly cortisol profiles ...

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

Animal studies suggest that circulating IGF-1 concentrations are influenced by hypoxia. To test whether a similar situation pertains in humans we related cord IGF-1 concentrations to cord pH in the babies of 1650 Caucasian mothers delivering at term. All pregnancies were singleton and antenatal growth and uterine blood flow was assessed at 20 and 32 weeks gestation. Hypoxia was chronic if associated with preeclampsia in non-smokers and acute based on cord pH. Effects of cigare...

Introduction: Congenital adrenal hyperplasia (CAH) is a rare condition affecting steroid-hormone synthesis. We reviewed the investigation and management of children with CAH against current international guidelines and explored variation by region and specialty of responsible clinician.Methods: Active national surveillance of new diagnoses of CAH in children under age 16 years and resident in Great Britain, undertaken prospectively from 2007 to 2009....

Nephropathy remains a major diabetes related complication despite improvements in metabolic control. Current interventions are based on the appearance of albuminuria. Whether earlier detection and treatment might be beneficial is unclear. The reabsorption of low molecular weight (<70 kDa) plasma proteins in the renal proximal tubule is mediated by an endocytic receptor, megalin, and its coreceptor, cubulin.Using label free quantitative proteomics we ...

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...

Thyroid ectopia is a frequent and severe form of congenital hypothyroidism and results from failure of the process of embryonic development and migration of the thyroid gland from the pharyngeal pouch to the anterior neck with the isthmus sited at the level of the cricoid cartilage. With improved technetium scanning techniques, cases of dual foci thyroid tissue are increasingly recognised. The incidence and clinical characteristics of this group of patients has not been establ...