hrp0082p1-d1-66 | Diabetes | ESPE2014

Metabolic Consequences of Antipsychotic Medication in Youths with Type 1 Diabetes: Analysis from the Prospective Nationwide German and Austrian Diabetes Survey DPV

Galler Angela , Molz Esther , Meusers Michael , Bartus Bela , Nake Andrea , Haberland Holger , Schober Edith , Holl Reinhard W

Background: The use of antipsychotic medication in medical practice is increasing in Europe. Antipsychotics have serious adverse effects like weight gain.Objective: Aim was to explore metabolic risk factors and glycaemic control in youths with type 1 diabetes treated with typical or atypical antipsychotics.Design and methods: Data of children, adolescents, and young adults with type 1 diabetes up to the age of 25 years and with dia...

hrp0084p2-354 | Fat | ESPE2015

Overweight and Obesity in Childhood Cancer Survivors

Denzer Christian , Breuninger Louise , Steinbach Daniel , Cario Holger , Debatin Klaus-Michael , Wabitsch Martin

Background: Obesity is a potential late-effect of therapies for childhood cancer. Reported prevalence rates of obesity in childhood cancer survivors are heterogenous and currently unavailable for children treated according to protocols of the German Society for Paediatric Oncology. Furthermore, risk factors for the development of obesity following childhood cancer remain largely unknown.Methods: From a cohort of n=149 patients followed in a late...

hrp0082p1-d1-107 | Fat Metabolism & Obesity | ESPE2014

Evidence of Early Alterations in Adipose Tissue Biology and Function in Obese Children

Landgraf Katrhin , Rockstroh Denise , Wagner Isabel , Tauscher Roy , Schwartze Julian , Buhligen Ulf , Till Holger , Wojan Magdalena , Kratzsch Jurgen , Kiess Wieland , Bluher Matthias , Korner Antje

Background: Accumulation of fat mass in the development of obesity may result from hypertrophy and/or hyperplasia and is frequently associated with adipose tissue (AT) dysfunction in adults. However, the onset and mechanisms of AT dysfunction are not entirely understood.Objective and hypotheses: We assessed composition, function, lipolysis, and inflammation in 171 AT samples from lean and obese children and adolescents (aged 0 – 18 years) to evaluat...

hrp0089p1-p183 | Growth & Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...

hrp0094p2-31 | Adrenals and HPA Axis | ESPE2021

Investigation of usage and acceptance of hydrocortisone granules in capsules for opening in children with adrenal insufficiency

Hilger Julia , Blankenstein Oliver , Neumann Uta ,

Context: Off-label and unlicensed use is widespread in medical therapy of children. Since 2007 there is an EU regulation, which includes the need for a pediatric investigation plan (PIP) in the drug approval process. In 2018, hydrocortisone granules in capsules for opening (Alkindi®) became the first medicine to be approved for the treatment of adrenal insufficiency in children from birth.Methods: An anonymised onli...

hrp0089p3-p130 | Fat, Metabolism and Obesity P3 | ESPE2018

Familial Partial Lipodystrophy, Importance of Family History – A Case Report

Stockley Camilla , Holder Susan , Rangasami Jayanti

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...

hrp0089rfc8.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Pharmacological Treatment of Adolescent Polycystic Ovary Syndrome (PCOS) According to the 2018 International Evidence-Based Guideline for the Assessment and Management of PCOS

Pena Alexia , Witchel Selma , Hoeger Kathy , Oberfield Sharon , Vogiatzi Maria , Misso Marie , Teede Helena

The treatment of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial. The aim of the international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and to improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core outcomes for the guideline. Internationally nominated panels including women with PCOS and a mult...

hrp0089p1-p235 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Diagnosis of Adolescent Polycystic Ovary Syndrome (PCOS) According to the 2018 International Evidence-Based Guideline for the Assessment and Management of PCOS

Pena Alexia , Hoeger Kathy , Oberfield Sharon , Wiitchel Selma , Vogiatzi Maria , Misso Marie , Teede Helena

The diagnosis of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial with adult diagnostic features overlapping with normal physiological events that occur during puberty. The aim of international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core ou...

hrp0082p1-d1-141 | Growth | ESPE2014

Whole Exome Sequencing is an Efficient Approach to Screen for Changes in Growth-Relevant Genes in Primary IGF1 Deficiency

Grosse Greta , Hilger Alina , Draaken Markus , Ludwig Michael , Reutter Heiko , Woelfle Joachim

Background: Primary IGF1 deficiency (PIGFD) is a rare disease defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. Whereas some members of the GH–IGF axis have been shown to be implicated in the severe syndromic forms of PIGFD due to GH insensitivity, genetic causes of less severely affected patients are mostly unknown.Objective and hypotheses: The aim of the present study was to systematically investigate fr...

hrp0084p1-150 | Miscelleaneous | ESPE2015

Severe Immunodysregulation Phenotypes Including Infancy-Onset Type 1 Diabetes Mellitus in Two Siblings with a Homozygous Mutation in the LPS-Responsive Beige-Like Anchor (LRBA) Gene

Schreiner Felix , Plamper Michaela , Duker Gesche , Schoenberger Stefan , Altmueller Janine , Hilger Alina , Reutter Heiko , Woelfle Joachim

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...