Endocrine Abstracts

The aim of cortisol replacement in adrenal insufficiency is to mimic the normal cortisol circadian rhythm. Timing of the last dose varies. Paediatric practice doses as close to midnight or after as possible compared to no dose after 18.00 h in adults. Using a detailed questionnaire, we ascertained side effect prevalence in 226 patients with adrenal insufficiency (77 CAH, 82 Addison, 67 hypopituitarism) and compared frequency of problems with timing glucocorticoid replacement. ...

Children and adolescents with type 1 diabetes treated at University College Hospital London (UCLH) from an African background have poorer glycaemic control compared to the British population (British mean HbA1c 7.8 (0.1), African mean HbA1c 9.4 (0.5) P<0.001).Haemoglobin A1c is an element of the haemoglobin to which glucose is bound. The ideal range is between 6.5 and 7.5% and is considered to represent good glycaemic control. Patients who p...

Introduction: Neonatal thyrotoxicosis is rare and occurs with transfer of Thyrotropin Receptor Antibodies (TRAb) across the placenta in a mother with a history of Grave’s disease. The neonatal mortality rate can be as high as 20%, usually secondary to cardiac failure. Therefore prompt diagnosis and treatment is essential.Methods: We report a series of seven infants with neonatal thyrotoxicosis seen in the Endocrine clinic between 2011 and 2015. Mate...

Hydrocortisone therapy should be individualised in patients with adrenal insufficiency to avoid over and under replacement. We assessed hydrocortisone absorbtion at different times of day which may impact on treatment regimens. We assessed the oral absorption of hydrocortisone in 48 patients (21M) aged between 6.1 and 20.3 years with congenital adrenal hyperplasia due to P450c21 deficiency. Hydrocortisone dosing ranged between 11.5 and 22.6 mg/m2 per day in three or...

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

Background: Oxidative stress has been implicated in the development and progression of complications in type 1 diabetes (T1DM). Vitamin E (α-tocopherol) undergoes β-oxidation of its chomanol ring and the resulting metabolite α-TLHQ has been proposed as a potential biomarker of oxidative stress. HbA1c relates in T1DM to microvascular complications predominantly although the end-points are late in disease development. The oxidative stress process may act independe...

Introduction: Glucose homeostasis is central to the understanding of diabetes and is influenced by hormones and by substrate flux. This implies a non-linear system which has been confirmed by time series analysis. A dynamic systems approach is required for describing the inter-relationship of glucose and insulin and we describe a method that measures a mathematical domain of glucose homeostasis termed the observed variability and lability (OVAL).Methods:...

The incidence of type 1 diabetes in children under 5 years is increasing. The insulin requirements, eating regimens and reaction to invasive procedures make this group a challenging cohort to manage on multiple daily injections. NICE Guidance was amended in 2008 to include the option of using CSII at diagnosis in the under 5’s.Seven CSII starts at diagnosis have been done (from 2009 to current). CSII is initiated within 72 h from initial diagnosis, ...

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 ...