hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0084fc8.2 | Obesity - Basic | ESPE2015

Apoptosis Inhibitor of Macrophages: an Anti-Inflammatory Adipocyte Factor in Mild Adolescent Obesity?

Karvela Alexia , Avgeri Aikaterini , Vlotinou Eleni D , Georgiou George , Papaxristou Dionysios , Miyazaki Toru , Spiliotis Bessie E

Background: Adipose tissue (AT) in obesity is characterized by low grade inflammation. The apoptosis inhibitor of macrophages (AIM; also called CD5L) is incorporated into adipocytes leading to increased lipolysis. Excess AIM-dependent lipolysis induces adipose tissue macrophage recruitment. M1 (proinflammatory) macrophage infiltration, with surface marker CD40, correlates with metabolic complications.Objective and hypotheses: To study serum levels and AT...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0084p1-103 | Perinatal | ESPE2015

Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype

Arya Ved Bhushan , Aziz Qadeer , Flanagan Sarah E , Ellard Sian , Tinker Andrew , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) has two main histological subtypes: diffuse and focal. Diffuse HH are most commonly due to recessive or dominant ABCC8/KCNJ11 mutations. Focal HH results due to somatic loss of the maternal 11p allele involving the ABCC8 and KCNJ11 region in patients with paternally inherited ABCC8 or KCNJ11 mutation.Aim: To molecular characterise a novel non-stop KCNJ11</em...

hrp0084p1-104 | Perinatal | ESPE2015

Diazoxide Responsive Congenital Hyperinsulinism in a Patient with Dual Genetic Aetiology (HNF4A and ABCC8 Mutation)

Giri Dinesh , Flanagan Sarah E , Park Julie , Ellard Sian , Didi Mo , Sennaippan Senthil

Background: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (MODY).<p...

hrp0084p2-293 | Diabetes | ESPE2015

Quality of Life in Adolescent with Type 1 Diabetes and Its Relationship with Metabolic Control

Espi E Aranzazu Garza , Frances Gracia Maria Lou , Aznar Elena Corella , Lozano Marta Ferrer

Background: Type 1 diabetes (T1D) has great psychological impact on adolescents and family’s lifestyle. It influences their perception of their quality of life (QOL), their metabolic control, and it may lead to future complications.Objectives: Identify how QOL affects on T1D adolescents and its relation to metabolic control.Methods: This is a retrospective study of 55 adolescents with T1D. Diabetes impacts patients’ conce...

hrp0084p2-360 | Fat | ESPE2015

Increasing Waist/Height Ratio and BMI Z-Score are Associated with Increased Comorbidities in Obese Youth, although Neither Accurately Identifies those with Abnormal Glucose Metabolism

Kao Kung-Ting , Alexander Erin , Harcourt Brooke E , McCallum Zoe , Wake Melissa , Werther George , Sabin Matthew

Background: At a population level, increasing age/sex corrected BMI Z-score (BMI-Z) is associated with increased risk of complications. It is unclear whether severity of obesity is a good predictor of comorbidities within groups of obese children. This knowledge is required to inform clinical management and pathways of care.Objective and hypotheses: In obese youth, to identify whether 1 increasing BMI-Z+/− waist/height ratio(WHtR) is associated wit...

hrp0084p2-377 | Fat | ESPE2015

The Effect of Exenatide on Weight and Appetite in Overweight Adolescents and Young Adults with Prader–Willi Syndrome

Salehi Parisa , Hsu Isabel , Azen Colleen G , Mittelman Steven D , Geffner Mitchell E , Jeandron Debra

Background: Prader–Willi Syndrome (PWS) is a genetic disorder associated with hyperphagia and hyperghrelinemia with major morbidity due to obesity. The aetiology of hyperphagia is unknown, but presumed to be multifactorial, and, as ghrelin is orexigenic, high levels may contribute to weight issues in PWS. Currently, there is no effective medical treatment for hyperphagia in PWS, but targeting appetite could be beneficial. Exenatide (Byetta (synthetic exendin-4); AstraZene...

hrp0084p2-408 | GH &amp; IGF | ESPE2015

Does Skeletal Disproportion in Children with Idiopathic Short Stature Influence Response to GH Therapy?

Cutfield Wayne S , Lindberg Anders , Hofman Paul , Derraik Jose , Geffner Mitchell E , Camacho-Hubner Cecilia

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

hrp0084p3-645 | Bone | ESPE2015

Long Term Effects of Bisphosphonate Treatment in a Case with Infantile Onset Severe form of Juvenile Paget’s Disease

Gonc E Nazli , Ozon Z Alev , Buyukyilmaz Gonul , Alikasifoglu Ayfer , Simsek Ozlem , Kandemir Nurgun

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...