Endocrine Abstracts

Most children with diabetes are insulin deficient (type 1). We have reported type 2 diabetes in children, defined by evidence of insulin resistance, but the prevalence and characteristics in UK children is unknown. We aimed to characterise and determine the prevalence of non-type 1 diabetes in the UK. The British Society for Paediatric Endocrinology and Diabetes Clinical Trials unit undertook a cross-sectional questionnaire survey of all paediatric diabetes centres during 2000...

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

Aims: To compare glycaemic control and weight gain in children with type 1 diabetes changing from twice daily premixed insulin to multiple daily injections (MDI) with either insulin glargine or insulin detemir.Methods: A retrospective study of 41 consecutive children and adolescents with type 1 diabetes, changed to MDI between January 2005 and April 2007, with outcome measures of HbA1C change and body mass index SDS (BMI-SDS) change after 12 months of MD...

Introduction: Two insulin regimes are commonly used in type 1 diabetes (T1D): twice daily (BD) premixed insulin (short and intermediate acting), and multiple daily injections (MDI) of short acting insulin with once daily bolus of long acting insulin. MDI is associated with better glucose control in adults, but the evidence base is weaker for children.Objectives: We aimed to compare children started on MDI to BD from diagnosis, on HbA1c as a measure of gl...

Type 2 diabetes (T2DM) is increasing in children in the UK and worldwide, most likely related to the rising prevalence of obesity. We are developing a UK national cohort of children (under 18 completed years) with diabetes defined by WHO criteria, suspected type 2, BMI above 85th centile; but who do not have genetically confirmed monogenic diabetes, secondary diabetes, or any evidence of pancreatic autoimmunity. The aim of this study is to describe the characteristics of the f...

Type 2 diabetes (T2DM) has emerged in youth, disproportionately affecting ethnic minorities. Maturity Onset Diabetes of the Young (MODY) has been reported in exclusively white UK children. We report the first UK Asian children with MODY, highlighting differences from T2DM.Child 1 is a slim (BMI SDS−0.14) female of Indian descent without acanthosis nigricans (AN). She presented aged 12 years with polydipsia and polyuria (HbA1c 8.6%). Hypoglycaemia w...

Introduction: EURO-WABB is a European research project within the field of rare diabetes diseases. The general objective is to support efficient diagnosis, treatment and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes.Methods: The project is supported by the EU DG-SANCO by the collaboration of 8 Associated Partners (AP) and 15 Collaborating Partners. University of Birmingham work as the Project Leader...

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...