hrp0092p1-367 | GH and IGFs (2) | ESPE2019

Normal IGF-Bioactivity and Low Free IGF-I in Patients with Prader-Willi Syndrome with High Total Serum IGF-I: Immunoreactive IGF-I Concentration Poorly Reflects IGF Bio-Activity and Bio-Availability.

Elizabeth Melitza , Donze Stephany , Pellikaan Karlijn , van den Berg Sjoerd , van Doorn Jaap , Peeters Robin P. , Hokken-Koelega Anita C.S. , de Graaff Laura C.G.

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

hrp0092p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Cinacalcet Experience in Hypercalcemia Due to CaSR Mutation

Döger Esra , Akbas Emine Demet , Kilinç Ugurlu Aylin , Küpçü Zekiye , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

hrp0092p2-301 | Thyroid | ESPE2019

Acute-Onset Peripheral Polyneuropathy in a 12-Year-Old Girl Due to Hashimoto Thyroiditis: Traps in the Diagnosis

Giza Styliani , Tychalas Athanasios , Gulordava Athina , Markidou Sophia , Litou Eleni , Kotanidou Eleni P , Rengina Tsinopoulou Vassiliki , Mouzaki Konstantina , Evangeliou Athanasios , Papadopoulou-Legbelou Kyriaki , Galli-Tsinopoulou Assimina

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...

hrp0089fc2.1 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Burosumab, a Fully Human anti-FGF23 Monoclonal Antibody, for X-linked Hypophosphatemia (XLH): Sustained Improvement in two Phase 2 Trials in Affected Children 1–12 years old

Linglart Agnes , van't Hoff William , Whyte Michael P. , Imel Erik , Portale Anthony A. , Boot Annemieke , Hogler Wolfgang , Padidela Raja , Mao Meng , Skrinar Alison , Martin Javier San , Carpenter Thomas O.

In XLH, excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia and consequent rickets, skeletal deformities, and growth impairment. The efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, was evaluated in two Phase 2 trials in children with XLH. In CL201, 52 children with XLH (5–12 years old, Tanner ≤2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) weeks, with doses titrated up to 2 mg/kg to...

hrp0089rfc12.5 | Diabetes and Insulin 2 | ESPE2018

Insulin Gene Promoter Methylation Status in Greek Children and Adolescents with Type 1 Diabetes

Mouzaki Konstantina , Kotanidou Eleni P , Fragou Aikaterini , Giza Styliani , Kleisarchaki Angeliki N , Tsinopoulou Vasiliki Rengina , Serbis Anastasios , Tzimagiorgis Georgios , Galli-Tsinopoulou Assimina

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0089p2-p066 | Diabetes &amp; Insulin P2 | ESPE2018

Prothrombin Gene 20210A Mutation Heterozygosity and MTHFR Gene C677T Mutation Homozygosity Detected in a Male Toddler Experiencing Femoral Venous Thrombosis During Diabetic Ketoacidosis

Kleisarchaki Angeliki N , Giza Styliani , Nikolaidou Olga , Mouzaki Konstantina , Kotanidou Eleni P , Litou Eleni , Rengina Tsinopoulou Vasiliki , Papadakis Emmanouil , Galli-Tsinopoulou Assimina

Introduction: Diabetic ketoacidosis (DKA) as an inflammatory state combined with the disruption of the normal coagulation cascade can lead patients to an increased risk of thrombosis. Especially, patients that are genetically susceptible to thrombosis could develop deep venous thrombosis (DVT) due to inflammation, dehydration, and hyperviscosity secondarily to DKA. It is noteworthy that children with DKA who underwent central venous catheter placement could develop DVT, especi...

hrp0089p2-p093 | Diabetes &amp; Insulin P2 | ESPE2018

Acute Mononeuropathy in an 8-Year-Old-Girl with Newly Diagnosed Type 1 Diabetes

Giza Styliani , Litou Eleni , Kotanidou Eleni P , Koliatos Panagiotis , Kleisarchaki Angeliki N , Tzirtzipis Tasos , Tsinopoulou Vasiliki Rengina , Tihalas Athanassios , Evangeliou Athanassios , Galli-Tsinopoulou Assimina

Introduction: Neuropathy, as a complication of type 1 diabetes (T1D), is a heterogeneous group with chronic polyneuropathy being the most frequent form. Acute mononeuropathy is rare and its pathophysiology has not been elucidated.Purpose: To describe acute mononeuropathy during the course of severe ketoacidosis in an 8-year-old girl diagnosed with T1D.Case report: An 8-year old girl was admitted to the Emergency Department because ...

hrp0089p2-p094 | Diabetes &amp; Insulin P2 | ESPE2018

HLA-G Gene Promoter Methylation Status in Children and Adolescents with Type 1 Diabetes

Mouzaki Konstantina , Kotanidou Eleni P , Fragou Aikaterini , Giza Styliani , Taousani Maria , Serbis Anastasios , Eboriadou-Petikopoulou Maria , Tzimagiorgis Georgios , Galli-Tsinopoulou Assimina

Introduction: HLA-G gene is involved in the control of immune response. It plays a primary role on immune tolerance and may participate in controlling autoimmune responses serving as a potential independent susceptibility marker. HLA-G has been isolated in some secretory granules and on the cell surface of primary islet cells induced to secrete insulin. Subsequently, it could be hypothesized that HLA-G methylation at pancreatic islet could sustain T cell activation and onset o...

hrp0089p2-p253 | Growth &amp; Syndromes P2 | ESPE2018

Influence of Puberty on Adult Height of SGA Children Treated with GH

Lopez-Siguero Juan P. , Munoz-Martinez Pablo , Borras-Perez Ma Victoria , Alvarez-Casano Maria , Sanchez-Moreno Sonia , Martinez-Aedo Ma Jose

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...