hrp0097p1-251 | Fat, Metabolism and Obesity | ESPE2023

Overweight and obesity in childhood and adolescence is associated with an increased fracture risk - Results of a systematic literature review

Brandt Stephanie , Schroth Viola , Wabitsch Martin

Introduction: Up to now, no systematic literature review has studied whether overweight or obesity compared to normal weight in childhood and adolescence is associated with an increased fracture risk (fractures overall and by site).Methods: The systematic literature search was conducted in PubMed/Medline, Embase, Cochrane Library, BIOSIS databases using defined keywords and MeSH terms. 1,677 publications were identified ...

hrp0097p2-15 | Growth and Syndromes | ESPE2023

Autosomal dominant inherited VUS 3 in the fibrillin 2 gene in a patient with tall stature

Geyrhofer Angelika , Hirtenlehner Sandra , Gencik Martin

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...

hrp0089p2-p368 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene

Denzer Friederike , Denzer Christian , Hornig Nadine , Holterhus Paul-Martin , Hiort Olaf , Wabitsch Martin

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

hrp0084p3-840 | Fat | ESPE2015

Are Age and Initial BMI-SDS in Obese Children and Adolescents Associated with the BMI-SDS Courses During and after the Attendance of an Inpatient Weight-Loss Program (LOGIC-Trial)?

Brandt Stephanie , Wabitsch Martin , Heitkamp Melanie , Geilhof Barbara , Langhof Helmut , Halle Martin , Siegrist Monika

Background: It has been discussed in literature, that being severely obese and adolescent are predictive for failure in a behavior based weight-loss program.Objective: To investigate the association between age and initial BMI-SDS with BMI-SDS courses during and after the attendance of an inpatient weight-loss program.Design: The LOGIC-trial involves overweight and obese children and adolescents (6–19 years), who participate i...

hrp0097t6 | Section | ESPE2023

Granulosa cell tumors in girls: Preliminary results of a meta-analysis of new and published cases

Kiss Eszter , Wessmann Sandra , W Carlson Joseph , Lundberg Elena , Stenmarker Margaretha , Bobeck Johan , Lodefalk Maria

Background: Granulosa cell tumors (GCT) originate from sex cord/stromal tissue in the gonad. They are typically located in an ovary, but extra-gonadal localisation exists. These tumors are extremely rare in children and no systematic review has been published. The objective of this systematic review is to examine the following questions: What is the clinical picture of girls with a GCT? How are these patients treated and what is their prognosis?<p class="a...

hrp0097s6.3 | Neonatal endocrinology | ESPE2023

The developing HPA axis: establishing diurnal variation in cortisol secretion

Finken Martijn

In adults and older children with adrenal insufficiency, hydrocortisone replacement therapy is based on the assumption that the secretion of cortisol follows a diurnal pattern, with a peak in the early morning, a gradual decline over the day and a nadir at midnight. However, replacement therapy with multiple daily doses of hydrocortisone is unable to exactly match the normal diurnal rhythm of cortisol secretion from an intact hypothalamus-pituitary-adrenal (HPA) axis, with con...

hrp0095p1-500 | GH and IGFs | ESPE2022

A patient-centric approach to connected health solutions in paediatric growth hormone therapy

Halabi Ammar , Martin Blaine , Koledova Ekaterina , Giunti Guido , Dimitri Paul

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

hrp0092p2-74 | Diabetes and Insulin | ESPE2019

Impact of the Flash Glucose Monitoring System on Children with Type 1 Diabetes After the First Year of Using in Systematic Way

Freijo Martin Concepcion , Bertholt Zuber Laura , Palenzuela Inmaculada

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

hrp0089p1-p125 | Fat, Metabolism and Obesity P1 | ESPE2018

M2 Macrophage Markers are Enriched in Human Deep Neck Adipose Tissue and Do Not Correlate with UCP1 Expression

Tews Daniel , Haggenmueller Benedikt , Wabitsch Martin , Fischer-Posovszky Pamela

Background: Secretion of catecholamines by adipose tissue M2 macrophages was recently proposed as a molecular mechanism leading to activation of brown adipose tissue and heat generation in mice. However, published data are conflicting and it is not clear whether this pathway might play a role in humans. To shed light on this, we studied macrophage polarization in human white and brown adipose tissue and related it to thermogenic gene expression.Methods: ...