hrp0089p2-p173 | Fat, Metabolism and Obesity P2 | ESPE2018

Familial Hypercholesterolemia Due to Homozygous LDLRAP1 Mutation: Variability of Phenotype and Response to Medical Therapy

Panou Evangelia , Schumacher Johannes , Woelfle Joachim

Background: Familial hypercholesterolemia (FH) leads to markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and is associated with a significantly increased cardiovascular mortality already in childhood and adolescence. FH is caused by dominant mutations in the genes encoding LDL-receptor (LDLR), ApoB-100 and protein convertase subtilin/kexin9 (PCSK9), whereas rarely recessive forms due to mutations in LDL receptor adaptor protein 1 (LDLRAP1...

hrp0086p1-p259 | Diabetes P1 | ESPE2016

Phenotype and Clinical Course of Diabetes Mellitus in Individuals with Pancreatic Hypoplasia Due to a PTFA Enhancer Mutation

Panou Evangelia , Gohlke Bettina , Woelfle Joachim

Background: Recently PTF1A enhancer mutations have been described in subjects with early-onset exocrine and endocrine pancreas insufficiency.Objective: To describe the clinical course in three children with PTF1A enhancer mutations, in particular anthropometric development, insulin requirement and diabetes control.Method: Retrospective analysis of growth, weight and BMI development as well as insulin requirement and HbA1c level in ...

hrp0086p1-p637 | Growth P1 | ESPE2016

Diagnosing GH Deficiency in Children by Arginine Hydrochloride Infusion Test: Relationship between Auxiological Characteristics, Arginine Plasma Profile and Arginine-Stimulated GH Release

Woelfle Joachim , Schreiner Felix , Gohlke Bettina

Background: Arginine HCl infusion is commonly used in the diagnostic workup of GH deficiency. There is a paucity of data whether obesity and/or short stature modulate arginine plasma concentration and associated arginine-stimulated GH secretion following a weight-based arginine infusion protocol.Objective and hypotheses: To study whether auxiological parameters modulate the arginine plasma concentration profile and associated GH secretion in children und...

hrp0089rfc15.4 | Growth and syndromes | ESPE2018

Characteristics, Effectiveness and Safety Data from Clinically Relevant Subgroups of Patients with Severeprimary IGF-I Deficiency (SPIGFD): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Woelfle Joachim , Polak Michel , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

hrp0089p2-p115 | Diabetes & Insulin P2 | ESPE2018

Favorable Outcome Despite Prolonged Hypoglycemic Episodes Following a Massive Insulin Overdose: A Case Series

Vollbach Heike , Gohlke Bettina , Schulte Sandra , Woelfle Joachim

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

hrp0089p1-p165 | Growth & Syndromes P1 | ESPE2018

Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in relation to Growth Hormone Therapy Onset

Zimmermann Maja , Laemmer Constance , Woelfle Joachim , Goihlke Bettina

Context: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder. Individuals with PWS are at risk to develop sleep-disordered breathing, including obstructive and central sleep apnea syndromes. PWS patients commonly receive Growth hormone (GH) treatment. Concerns have been raised following reports of sudden death shortly after GH initiation. During recent years GH treatment was increasingly initiated earlier – commencing treatment already during the first...

hrp0089p1-p184 | Growth & Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

hrp0086rfc6.7 | Syndromes: Mechanisms and Management | ESPE2016

Characteristics of Responders and Poor-responders to Increlex® Therapy – Data from Children Enrolled in the European Increlex® Growth Forum Database (EU-IGFD)

Bang Peter , Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

hrp0086p1-p564 | Perinatal Endocrinology P1 | ESPE2016

Long-Term Effects of Differences in Fetal Environment: Endocrine Influences on Cognitive Function and Personality in Teen Monozygotic Twins

Wimmer Lioba , Woelfle Joachim , Schulte Sandra , Bartmann Peter , Gohlke Bettina

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

hrp0082p1-d3-161 | Growth (2) | ESPE2014

Safety and Effectiveness of Increlex® Therapy in Children Enrolled in the Increlex® Growth Forum Database in Europe: 4 Years Interim Results

Polak Michel , Woelfle Joachim , Bang Peter , Sicsic Aude , Fiorentino Bruno

Background: The post-authorization registry, European Increlex® (Mecasermin (rDNA Origin) injection) growth forum database (EU-IGFD) was initiated in Dec 2008 to collect data on children with growth failure treated with Increlex®.Objective: To report 4-year safety and effectiveness data.Methods: Multicenter, open-label observational study, eCRF data collection.Results: As of 30...