hrp0089rfc10.3 | Late Breaking | ESPE2018

Developmental Regulation of Obestatin and Adropin in Prader-Willi Syndrome and Non-Syndromic Obesity: Associations with Weight, BMI-z, HOMA-IR, and Lipid Profile

Orsso Camila E , Butler Andrew A , Muehlbauer Michael J , Cui Huaxia N , Rubin Daniela A , Pakseresht Mohammadreza , Butler Merlin G , Prado Carla M , Freemark Michael , Haqq Andrea M

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

hrp0086p1-p215 | Diabetes P1 | ESPE2016

The Influence of ß-Cell Autoimmunity on Cystic Fibrosis Related Diabetes Mellitus – A DPV Registry Analysis

Wurm Michael , Prinz Nicole , Konrad Katja , Laubner Katharina , Kieninger Dorothee , Kapellen Thomas , Wiemann Dagobert , Schebek Martin , Lilienthal Eggert , Smaczny Christina , Witsch Michael , Bauer Maria , Holl Reinhard W.

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...

hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

hrp0095p2-53 | Diabetes and Insulin | ESPE2022

Clinical and immunological characteristics of new-onset type 1 diabetes in children during the COVID-19 pandemic

Gil Margolis Merav , Weizman Sarit , Lazar Liora , Yakobovich-Gavan Michal , Tenenbaum Ariel , Phillip Moshe , Oron Tal

Background: Type 1 Diabetes (T1D) is a chronic disease resulting from autoimmune destruction of insulin-secreting pancreatic β cells. Viruses are known to play a role in the pathogenesis of T1D. There is no consistent evidence that SARS-CoV-2 induces T1D in children or adults. Nevertheless, evidence suggests that the SARS-CoV-2 affects β cell function, suggesting a role for the virus in the pathogenesis of the disease. It is thus plausible that the e...

hrp0089p1-p041 | Diabetes & Insulin P1 | ESPE2018

Concealment of Type 1 Diabetes in Adolescence Affects Adherence to Treatment, Metabolic Control, and Quality of Life

Nir Judith , Leffler Nir , Nagelberg Nessia , Yacobovitz-Gavan Michal , Phillip Moshe , Oron Tal

Introduction: Type 1 diabetes (T1D) is one of the common chronic diseases of childhood. T1D management is affected both by physiological and behavioral factors. Some patients and their parents choose to conceal the disease from others. Concealment of disease status is not unique for T1D, and has been shown to adversely affect clinical outcomes, social support and well-being of patients with other chronic conditions. There is limited data on the effects of concealment of T1D in...

hrp0086rfc8.5 | Growth: Clinical | ESPE2016

Optimal Sampling of IGF-1 During Weekly Administration of a Long Acting Human Growth Hormone (MOD 4023)

Fisher Dennis M. , Mendelson Michal Jaron , Vander Shelly , Koren Ronit , Hart Gili

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. These models confirm that IGF-1 (and IGF-1 SDS) varies during the dosing interval. One critical clinical and research issue is when to optimally ...

hrp0086p1-p237 | Diabetes P1 | ESPE2016

The Prevalence of Diabetic Ketoacidosis in Children with New-Onset Type 1 Diabetes Mellitus

Niechcial Elzbieta , Gertig-Kolasa Anna , Krzysko-Pieczka Izabela , Skowronska Bogda , Stankiewicz Witold , Michalak Michal , Fichna Piotr

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...

hrp0086p1-p625 | Growth P1 | ESPE2016

2nd Year Pharmacokinetic and Pharmacodynamic Modeling of Long-Acting Human Growth Hormone (MOD 4023) in Growth Hormone Deficient Children

Fisher Dennis M. , Jaron Mendelson Michal , Vander Shelly , Koren Ronit , Hart Gili

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. Those models were based on data collected during the ‘PKPD period’ (the second steady state dose of MOD-4023) and monthly values during...

hrp0082p2-d3-618 | Turner Syndrome | ESPE2014

GH Deficiency as a Cause of Persistent Hypoglycaemia in a Child with Turner Mosaic and Kabuki Syndrome

Ajzensztejn Michal , Shah Pratik , Abid Noina , Hurst Jane , Morrogh Deborah , McKee Shane , Hussain Khalid

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

hrp0082p3-d1-953 | Sex Development | ESPE2014

The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies

Kolesinska Zofia , Rojek Aleksandra , Kedzia Helena , Blaszczynski Michal , Latos-Bielenska Anna , Kapczuk Karina , Niedziela Marek

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...