hrp0092p1-404 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Improvement of Final Height in Idiopathic Central Precocious Puberty is Associated with Delay of Bone Maturation with GnRH Agonist Therapy Under the Age of 7 Years

Vuralli Dogus , Gonc E. Nazli , Ozon Z. Alev , Kandemir Nurgun , Alikasifoglu Ayfer

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

hrp0092p2-149 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN

Galcheva Sonya , Iotova Violeta , Ellard Sian , Chuperkova Jivka , Bazdarska Yuliya , Bocheva Yana , Flanagan Sarah E.

Background: Hyperinsulinaemic hypoglycaemia (HH) is a clinically and genetically heterogeneous group of disorders characterized by persistent hypoglycaemia due to inappropriate insulin secretion from the pancreatic β-cell.Aim: The objective was to analyze the demographic, clinical and genetic characteristics of patients with HH, diagnosed and/or treated at a tertiary endocrine center, part of the European referen...

hrp0092p2-223 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Long Term Effects of GnRH Agonist Therapy on BMI in Girls with Idiopathic Central Precocious Puberty

Vuralli Dogus , Ozon Z. Alev , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...

hrp0092p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

To Whom Should Central Nervous System Imaging be Performed in Girls with Central Precocious Puberty (CPP)?

Vuralli Dogus , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun , Ozon Z. Alev

Background: Organic lesions are present in 5-10% of cases with CPP. Determinants of an increased risk for organic pathology underlying CPP in girls are debatable. CNS imaging is recommended for girls who have pubertal signs before 6 years of age. Although neurological findings may suggest organic pathology, other clinical features and hormonal variables have not been adequately examined.Aim: To analyze clinical&h...

hrp0089fc3.4 | Diabetes and Insulin 1 | ESPE2018

Is the Glycaemic Response from Fat in Meals Dose Dependent in Children and Adolescents with T1DM on Intensive Insulin Therapy?

O'Connell Susan M. , O'Toole Norma , Cronin Conor , Saat Chen , McElduff Patrick , King Bruce , Smart Carmel E.

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

hrp0089fc12.2 | Diabetes and Insulin 2 | ESPE2018

Apoptosis and Oxidative Stress Markers During the Oral Glucose Tolerance Test (OGTT)

Gil Andrea Paola Rojas , Katsa Maria Efthymia , Tzortzis Nomikos , Ioannidis Anastasios , Kostopoulou Eirini , Spiliotis Bessie E

Background: In adults, insulin resistance is associated with vascular damage and progressive loss of the endothelial protective functions. Additionally, it further complicates the micro- and macro- vascular environment through increasing oxidative stress and inflammation.Aim: The purpose of this study was to evaluate how apoptosis and antioxidant markers are correlated with biochemical markers in children, during the glucose tolerance te...

hrp0089fc15.1 | Growth and Syndromes | ESPE2018

The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology

Perchard Reena , Murray Philip G , Highton Georgina L , Whatmore Andrew J , Clayton Peter E

Background: Currently, data on the diagnostic yield of targeted gene panels using next generation sequencing (NGS) in children with short stature of undefined aetiology (SSUA) are limited. EPIGROW (ClinicalTrials.gov ID NCT00710307) was a prospective European epidemio-genetic study in which a targeted NGS panel including 69 genes associated with short stature (e.g. primordial growth disorders and skeletal dysplasias) was performed in 263 patients and 263 controls. In these pat...

hrp0089p2-p187 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism due to a Homozygous ABCC8 Missense Mutation Previously Reported to be Dominant

Galcheva Sonya , Iotova Violeta , Flanagan Sarah E , Ellard Sian , Hattersley Andrew

Background: Congenital hyperinsulinism possesses considerable clinical heterogeneity attributed partly to its diverse genetic causes.Objective: To present a boy with diazoxide unresponsive hyperinsulinaemic hypoglycaemia due to a homozygous recessive ABCC8 missense mutation, previously reported to be dominant acting and being inherited by his unaffected heterozygous parents.Material and results: The boy was a third preterm child of...

hrp0089p1-p214 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

Katharopoulos Efstathios , Sauter Kay-Sara , Pandey Amit V , Fluck Christa E

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

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...