hrp0089p2-p002 | Adrenals and HPA Axis P2 | ESPE2018

GnRH-analogue Treatment in Children with Congenital Adrenal Hyperplasia (CAH): Data from a Multicenter CAH Registry

Schreiner Felix , Rohayem Julia , Fricke-Otto Susanne , Golembowski Sven , Jorch Norbert , Schwab Karl Otfried , Warncke Katharina , Zanier Ulrike , on behalf of the German CAH Registry (DGKED-QS)

Background: Final height in patients with congenital adrenal hyperplasia (CAH) is generally assumed to be lower than the population norm. Besides CAH subtype and age at diagnosis, timing of pubertal development is considered to have a significant impact on final height. In most CAH patients, puberty starts within normal ranges, although at a somewhat earlier mean age compared to reference populations. CAH-complicating gonadotropin-dependent precocious puberty has been reported...

hrp0089p1-p175 | Growth & Syndromes P1 | ESPE2018

Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1 – Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency

Montalbano Antonino , Juergensen Lonny , Fukami Maki , Thiel Christian T , Hauer Nadine H , Fricke-Otto Susanne , Binder Gerhard , Naiki Y , Ogata Tsutomu , Hassel David , Rappold Gudrun A

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...

hrp0086lbp3 | (1) | ESPE2016

The Growth Hormone – Insulin Like Growth Factor I (IGF-1) System in Early Non-Alcoholic Fatty Liver Disease: From an Animal Model to a Children’s Cohort

de Giorgis Tommaso , Penke Melanie , Schuster Susanne , Grafe Nico , Kiel Alexander , Karlas Thomas , Weigand Johannes , Vogel Mandy , Garten Antje , Antje Korner , Kiess Wieland

Background: Non-alcoholic fatty liver disease (NAFLD) represents one of the most common obesity complications and can progress to non-alcoholic stetohepatitis (NASH). NASH is associated with lower insulin like growth factor I (IGF-1) and IGFBP-3, however no data are available regarding the growth hormone (GH)-IGF-I axis in early stage of NAFLD, characterised by hepatic steatosis.Objective and hypotheses: We aimed to investigate the GH-IGF-1 pathway in a ...

hrp0082p2-d3-350 | Diabetes (2) | ESPE2014

Wellbeing of Adolescents with Type 1 Diabetes: Influence of Metabolic Control and Family Factors

Vanbesien Jesse , Berlanger Laurence , Bohler Susanne , Laridaen Jolien , Gies Inge , Van Aken Sara , De Waele Kathleen , Cools Martine , Maris Ellen , Vanderfaeillie Johan , De Schepper Jean

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

hrp0084fc3.3 | Diabetes | ESPE2015

Clinical Characteristics and Molecular Genetic Analysis of Six Patients with Pancreas Aplasia and Neonatal Diabetes: Predominance of PTF1A-Enhancer Mutations

Raile Klemens , Gong Maolian , Spagnoli Francesca , Chen Wei , Hummel Oliver , Darendeliler Feiza , Bober Ece , Abaci Ayhan , Krill Winfried , Thiel Susanne , Kuhnen Peter , Hussain Khalid

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

hrp0094p1-33 | Fat, Metabolism and Obesity A | ESPE2021

Metabolomics in early life and the association with body composition at age 2 years

van Beijsterveldt Inge , Snowden Stuart , Myers Pernille Neve , Fluiter Kirsten de , Brix Susanne , Ong Ken , Dunger David , Hokken-Koelega Anita , Koulman Albert ,

Background and Objectives: Early life might be a critical window for adiposity programming later in life. Metabolic profile in early life may reflect this programming and correlate with later life adiposity. We investigated if metabolic profile at 3 months of age is predictive for body composition at age 2 years and if there are differences between boys and girls and between infant feeding types.Methods: In 318 healthy t...

hrp0097fc5.1 | Diabetes and insulin 1 | ESPE2023

Diabetes mellitus and gender incongruence: Worse metabolic control in type 1 and higher mental health issue rates in type 1 and 2 diabetes – a DPV registry study

Boettcher Claudia , R. Tittel Sascha , Reschke Felix , Fritsch Maria , Schreiner Felix , Achenbach Maike , Thiele-Schmitz Susanne , Gillessen Anton , Nellen-Hellmuth Nicole , Golembowski Sveb , W. Holl Reinhard

Background: The condition when a person’s gender identity does not match the gender assigned at birth is called gender incongruence (GI). GI numbers increased tremendously over the last decade. Diabetes mellitus – type 1 and type 2 – is a severe and lifelong disease. GI combined with diabetes may potentiate the burden for affected people.Objective: The study aimed to characterize people with GI and diab...

hrp0097rfc6.4 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Earlier Occurrence of Puberty and Pubertal Hair Development in Boys and Girls - Insights from the DPV Initiative Data

Reschke Felix , Gohlke Bettina , Lanzinger Stefanie , Boettcher Claudia , Gemulla Gita , Thiele-Schmitz Susanne , Dunstheimer Desiree , van den Boom Louise , Joachim Woelfle , Reinhard Holl

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

hrp0089p1-p077 | Diabetes & Insulin P1 | ESPE2018

Additional Insulin is Necessary to Prevent Rise in Blood Glucose after Fat-protein-rich Meals in Type 1 Diabetes

Schweizer Roland , Herrlich Susann , Losch-Binder Martina , Glokler Michaela , Heimgartner Magdalena , Liebrich Franziska , Meszner Katja , Muckenhaupt Tina , Schneider Angelika , Ziegler Julian , Neu Andreas

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

hrp0089p2-p139 | Fat, Metabolism and Obesity P2 | ESPE2018

The Associations Between Neck – and Upper Arm Circumference with Cardiometabolic Risk Over Traditional Risk Factors in Adolescents - Data from Five EUROPEAN Countries (PreSTART-Study)

Weihrauch-Bluher Susann , Petroff David , Brady Emer M. , Gray Laura J. , Ribeiro Rogerio T. , Vergara Mitxeltorena I. , Gerasimidi-Vazeou Diana A. , Davies Melanie J.

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...