Endocrine Abstracts

It is over 17 years since the randomised controlled trial of metformin showed efficacy in childhood type 2 diabetes. Since that time, despite much investment in paediatric investigation plans, very few interventional clinical trials have reported. This presentation reviews the evidence for childhood type 2 diabetes being different to adult type 2 diabetes. Childhood type 2 diabetes is a more aggressive disease; children have lower insulin sensitivity than adults; and complicat...

Background: Wolfram Syndrome (WS) is a rare autosomal recessive disorder characterised by early-onset diabetes and optic atrophy as well as a variable spectrum of other endocrine and neurological conditions. It is caused by mutations in the WFS1 gene. Previous reports have documented a variable prevalence of hypogonadism (6.3% of the international EURO-WABB registry, 34% of a German cohort); however the only UK cohort reported was of 10 males, 7 of whom had primary gonadal atr...

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood hyperphagia and obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. PWS multidisciplinary (MDT) clinics were introduced from 2004 at Birmingham Children’s Hospital, a tertiary paediatric centre. This enabled centralised coordination of growth...

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. We aimed to review the impact of growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children with PWS.Methods/design: Retrospective observational study ...

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...

Background: Hypothalamic hamartomas (HH) are congenital, benign tumours consisting of disorganised neuronal cells within the hypothalamus. They usually present with precocious puberty, seizures, behavioural abnormalities, either in isolation or combined.Aims: To look at the endocrine outcomes of patients with HH.Methods: A retrospective casenote review of all patients diagnosed with HH over a 20-year period within a single endocrin...

As the sensitivity of a single GH test is poor, current NICE guidelines (2010) state that to make a diagnosis of isolated GH deficiency (IGHD), two stimulation tests need to show subnormal peak GH levels. In our centre we use insulin tolerance (ITT) or glucagon stimulation (GST) as the 1st test, and arginine stimulation (AST) as the 2nd test.The purpose of this study was to identify the proportion of children with discrepant test results; and to establis...

Objectives: Many successful European centres provide intensive education as 2 week inpatient admissions for newly diagnosed type 1 diabetes. Prolonged inpatient stay is resource intensive and disrupts the family unit. Our centre aimed to determine the feasibility of delivering an intensive education programme in an ambulatory care setting.Methods: The curriculum, introduced in October 2013, comprised 20 hours face to face education by paediatric diabetes...

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...

Background: Germline mutations in the Phosphatase and Tensin Homolog Hamartoma tumour (PTEN) gene are associated with a number of conditions, collectively known as PTEN hamartoma tumour syndromes (PHTS). Individuals with PHTS are at increased risk of a number of cancers primarily in adulthood including differentiated thyroid carcinoma (DTC) with an estimated lifetime risk of DTC of up to 38%. International guidance recommends screening commencing from 17 years while the 2017-U...