Endocrine Abstracts

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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...

Background: Aortic sized index (ASI) defined as aortic dimensions/body surface area (BSA), has been proposed as a method of identifying aortic dilatation in Turner syndrome. A recent paper reported centile charts of aortic dimensions across for BSA using echocardiogram in 451 children and adults with TS allowing for calculation of Z scores.1Methods: We report Z scores for aortic root adjusted for BSA from clinical echocardiog...

Background: Persistent Müllerian Duct syndrome (PMDS) is characterised by the presence of Müllerian structures in a 46XY male. PMDS can result from either a defect in Anti-Müllerian hormone (AMH) production or in the AMH receptor. AMH causes the Müllerian ducts to atrophy, enabling the testes to move transabdominally to the deep inguinal rings and into the scrotum. In the absence of AMH action, PMDS can cause problems with testicular descent. We present a f...

Introduction: The UK has seen a steady rise in childhood obesity over the last 30 years, with nearly a third of children aged 2–15 now overweight or obese. Childhood obesity represents a significant health burden, costing the NHS many millions of pounds.Aim: The aim of this study was to investigate the knowledge, perception and actions of obese patients at the Royal Manchester Children’s Hospital (RMCH), to guide recommendations for improving t...

Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely o...

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children ...

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...