hrp0086p1-p200 | Diabetes P1 | ESPE2016

Driving Paediatric Diabetes Care Forward in the UK: Improvements in Outcomes in the North West Following National Initiatives

Moore Helen S , Carson Margot E , Maiden Jonathan , Ng Sze May

Background: Type 1 diabetes mellitus (T1DM) continues to pose serious health risks with devastating long-term complications. UK management and control of T1DM in children and young people (CYP) remains amongst the poorest in Europe and significant variations in diabetes health outcomes are evident. In 2012–13 a Best Practice Tariff (BPT) for paediatric diabetes care was introduced and a National Peer Review Quality Assurance programme (DQuINS) developed. Both were develop...

hrp0086p1-p253 | Diabetes P1 | ESPE2016

Sulphonylurea Treatment in a Patient with Intermediate DEND Syndrome

Catli Gonul , Kocyigit Cemil , Gencpinar Pinar , Can Penbe S. , Dundar Nihal O. , Dundar Bumin N.

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

hrp0086p2-p413 | Gonads & DSD P2 | ESPE2016

Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation

Jensen Karen S , Hvistendahl Gitte M , Kristensen Kurt , Olsen Henning , Vogel Ida , Birkebaek Niels H

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

hrp0086p1-p481 | Fat Metabolism and Obesity P1 | ESPE2016

The Relation of Glycaemic Variability Obtained by Continuous Subcutaneous Glucose Monitoring with IL-6 and Adiponectin Levels in Obese Children with Metabolic Syndrome and Insulin Resistance

Kaya Abdurrahman , Kocyigit Cemil , Catli Gonul , Can Penbe S. , Sutcu Recep , Dundar Bumin N.

Background: Increased glycaemic variability (GV) (short-term fluctuations in blood glucose level) is associated with increased oxidative stress, vascular complications and mortality in diabetic and prediabetic patients.Objective and hypotheses: To investigate the relationship between GV and inflammatory markers in obese children with metabolic syndrome (MS) and insulin resistance (IR).Method: Fifty obese adolescents with insulin re...

hrp0086p2-p503 | Fat Metabolism and Obesity P2 | ESPE2016

The relationship between Subclinical Hypothyroidism and Iodine Deficiency, Serum Leptin Levels and Metabolic Syndrome in Obese Children

Dundar Bumin N. , Tanrısever Ozgur , Catli Gonul , Kocyigit Cemil , Can Penbe S. , Pirgon Ozgur

Background: Subclinical hypothyroidism (SH) has an incidence of 3.2–22.2% in obese children. The etiology of increased prevalence of SH is still unclear in obese individuals.Objective and hypotheses: To investigate the relation of SH with iodine deficiency, serum leptin levels and metabolic parameters in obese children and adolescents.Method: One hundred and fifty nine obese and 54 healthy children and adolescents were include...

hrp0082fc8.6 | Fat Metabolism | ESPE2014

A Novel Missense Variant in the Insulin Receptor Gene in Three Unrelated Irish Families with Severe Insulin Resistance Syndrome: Evidence for an Irish Founder Effect

Mavinkurve M , O'Connell S , Cody D , Isaac I , Harris J , Semple R K , Mc Donnell C

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

hrp0082p1-d3-91 | Diabetes (2) | ESPE2014

Feasibility and Acceptability of Robot Assistant in Self-management of Type 1 Diabetes in Children

Al-Taee Majid , Abood S , Garrett Christopher , Choudhary Pratik , Kapoor Ritika R

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

hrp0082p2-d1-514 | Pituitary | ESPE2014

Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders

Lucaccioni Laura , McNeilly Jane , Mason Avril , Giacomozzi Claudio , Shaikh M Guftar , Iughetti Lorenzo , Ahmed S Faisal

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8–17.3) and 9.5 yea...

hrp0082p3-d1-632 | Adrenals &amp; HP Axis | ESPE2014

Secondary Pseudohypoaldosteronism Type 1: the Role of a Urinary Steroid Profile

Grace M L , Murray D M , Joyce C , Taylor N F , Ghataore L , O'Connell S M

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...