hrp0084p3-1249 | Programming & Misc. | ESPE2015

Telomere Length in Young Adults Born Preterm and the Risk for Cardiovascular Disease; Support for Accelerated Biological Ageing in Subjects Born Preterm

Smeets Carolina , Codd Veryan , Samani Nilesh , Hokken-Koelega Anita

Background: Subjects born preterm have an increased risk for ageing-associated diseases such as cardiovascular disease (CVD) in later life but the underlying cause is largely unknown. Telomere length (TL) is a usable index for ageing, with shorter TL indicating older biological age. Furthermore, short TL is associated with CVD.Objective and hypotheses: To investigate TL in subjects born preterm compared to term and to assess if TL is associated with risk...

hrp0094fc2.5 | Fat, Metabolism and Obesity | ESPE2021

Reference values for longitudinal body composition in children aged 0-5 years, using Dual-energy X-ray (DXA) absorptiometry

van Beijsterveldt Inge , de Fluiter Kirsten , Hokken-Koelega Anita ,

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

hrp0097rfc1.3 | Adrenals and HPA Axis | ESPE2023

The effect of storage and temperature on the stability of steroid hormones in dried blood spots

Olthof Anouk , Wickenhagen Wjera , Hillebrand Jacquelien , Boelen Anita , Heijboer Annemieke

Introduction: Monitoring steroid hormone levels of children with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD), can be challenging. Dried blood spot (DBS) sampling can be helpful for these patients. DBS sampling is less invasive, easier to sample, and simpler to transport and store compared to venous blood sampling. Additionally, DBS sampling can be done at home at any time of the day, thus improving p...

hrp0084p1-30 | Diabetes | ESPE2015

A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family

Maines Evelina , Hussain Khalid , Flanagan Sarah E , Ellard Sian , Piona Claudia , Morandi Grazia Grazia , Ben Sarah Dal , Cavarzere Paolo , Antoniazzi Franco Franco , Gaudino Rossella

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

hrp0097p2-174 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

Meneghin Alice , Mozzato Chiara , Monti Elena , Guazzarotti Laura

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

hrp0095rfc10.5 | GH and IGFs | ESPE2022

Evaluation of health-related quality of life & problem behavior in adults born small for gestational age treated with growth hormone during childhood in comparison with untreated controls

Dorrepaal Demi , Wesley Goedegebuure , der Steen Manouk van , Anita Hokken-Koelega

Background: Being born small for gestational age (SGA) has been associated with a reduction in health-related quality of life (HRQoL) and more problem behaviour. Growth hormone (GH) treatment, which leads to a significant improvement in adult height (AH), improves HRQoL and decreases problem behavior in SGA children. However, such results are very limited in SGA adults who were treated with GH during childhood.Objective:...

hrp0095p1-460 | Diabetes and Insulin | ESPE2022

Assessing the clinical effectiveness of advanced hybrid closed loop insulin pump therapy and calibration-free glucose sensor - experience of a single centre, Arendal, Norway

Rojnic Putarek Natasa , Schmidt Katharina , Henrik Augustsson Johan , Hurvenes Moen Hilde , Spehar Uroic Anita

Introduction: Automated insulin delivery has demonstrated improved glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). The present analysis investigates real-world glycemic outcomes in children and adolescent on the MiniMed™ 780G advanced hybrid closed loop (AHCL) system after switching from MiniMed™ 640G predictive low glucose suspend system (PLGS) or MiniMed 670G hybrid closed loop (HCL) system and calibration-free ...

hrp0095p1-262 | Fat, Metabolism and Obesity | ESPE2022

Altered inflammatory parameters and chemokine network in obese children

Spehar Uroic Anita , Filipovic Masa , Sucur Alan , Krnic Nevena , Grcevic Danka

Background: Childhood obesity has increased in epidemic proportions worldwide. Growing evidence confirms persistent low-grade systemic inflammation in obese individuals. It eventually leads to insulin resistance and endothelial damage, thus setting the ground for the development of metabolic and vascular complications.Aim: To investigate metabolic and inflammatory parameters and their relationship in obese children, by a...

hrp0095p1-299 | GH and IGFs | ESPE2022

Three years of growth hormone (GH) treatment in young adults with PWS previously treated with GH during childhood: Effects on cognitive functioning

Trueba - Timmermans Demi , Mahabier Eva , Grootjen Lionne , Juriaans Alicia , Hokken - Koelega Anita

Introduction: Most patients with Prader-Willi syndrome (PWS) have a mild to moderate cognitive impairment. Growth hormone (GH) treatment has positive short- and long-term effects on cognition in children with PWS. Few studies, however, have investigated the effects of GH on cognitive functioning in adults with PWS.Objective: To investigate the effects of 3 years GH treatment on cognitive functioning in young adults with ...

hrp0095p2-61 | Diabetes and Insulin | ESPE2022

Ketoacidosis and Age Distribution in New-Onset Type 1 Diabetes During Covid-19 Pandemic

Vinkovic Maja , Krnic Nevena , Bogdanic Ana , Dumic Kubat Katja , Braovac Duje , Spehar Uroic Anita

Background:There are numerous reports indicating increased risk of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes (T1D) in childhood during COVID-19 pandemic. Delayed diagnosis, reduced access to immediate health care and psychological effects of pandemic have been suggested as possible reasons.Methods: We conducted cross sectional, single-center study at Department of Pediatrics, University Hospital Center Zag...