hrp0092p3-83 | Diabetes and Insulin | ESPE2019

Diabetes Mellitus in a 16-Year-Old Boy Developing Multiple Neuro-Endocrine Dysfunctions in the Course: Is it Type 1 Diabetes or Wolfram Syndrome, or Both?

Santi Maristella , Emma Flück Christa , Böttcher Claudia

Introduction: Autosomal recessive mutations in the Wolfram syndrome type 1 gene are responsible for the classical Wolfram syndrome (OMIM_ 222300), also known by the acronym "DIDMOAD" (diabetes insipidus, diabetes mellitus (DM), optic atrophy and deafness). The gene encodes wolframin, a membrane glycoprotein, which helps to regulate the calcium homeostasis in the endoplasmic reticulum of many different tissues, including the pancreatic...

hrp0092p3-279 | Late Breaking Abstracts | ESPE2019

Relation between Levels of Atymullerian Hormone and Inhibin B and Spontaneous Puberty in Patients with Turner Syndrome – Preliminary Results

Ruszała Anna , Wójcik Małgorzata , Starzyk Jerzy B.

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

hrp0089fc15.5 | Growth and Syndromes | ESPE2018

Utility of BDNF and MMP-1 as Markers of Cardiometabolic Risk in Turner Syndrome Girls

Błaszczyk Ewa , Miłosz Lorek , Francuz Tomasz , Gieburowska Joanna , Gawlik Aneta

Background: It remains unclear whether cardiometabolic and vascular risks in Turner syndrome (TS) are the consequence of unidentified intrinsic factors or, conversely, the result of modifiable risk factors, such as overweight. New markers that could explain the pathogenesis of metabolic complications are under investigation.Objective: The comparison of the selected biochemical cardiometabolic risk markers between TS patients and healthy controls.<p c...

hrp0089p2-p124 | Fat, Metabolism and Obesity P2 | ESPE2018

Relationships of Dietary Intake and Sugar Rich Products Consumption with Hepatic Fat Content and Insulin Resistance among Children with Overweight/Obesity: The PREDIKID Study

Aranaza Lide , Diez-Lopez Ignacio , Medrano Maria , Oses Maddi , Huybrechts Inge , Ortega Fran B , Labayen Idoia

Pediatric non-alcoholic fatty liver disease (NAFLD) has increased in parallel with childhood obesity. Dietary habits, particularly products rich in sugars, may influence both hepatic fat content and insulin resistance. Hence, the aim of the current study was to examine the associations of the consumption of dietary foods (cereals, fruits and vegetables, meat and meat products, dairy products, fish and shellfish, total and added sugars) and composition (macronutrients and fiber...

hrp0089p2-p218 | GH &amp; IGFs P2 | ESPE2018

The Rationale and Design of TransCon GH

Sprogoe Kennett , Beckert Michael , Mortensen Eva , Karpf David B , Leff Jonathan A

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

hrp0089p2-p219 | GH &amp; IGFs P2 | ESPE2018

Baseline Demographics of the TransCon GH Phase 3 heiGHt Trial

Beckert Michael , Karpf David B , Shu Aimee , Lin Zhengning , Leff Jonathan A

Background: TransCon GH is a novel sustained-release recombinant human GH (somatropin) prodrug in development for children with GH deficiency (GHD). It is designed to release unmodified GH and intended to provide comparable efficacy, safety, tolerability, and immunogenicity to daily GH with once-weekly dosing. Based on results from a phase 2 trial, which demonstrated comparable efficacy (annualized height velocity for TransCon 0.21 mg GH/kg per week of 12.9 cm/year vs 11.6 cm/...

hrp0089p3-p243 | Growth &amp; Syndromes P3 | ESPE2018

Increased Serum Activity of Liver Aminotransferases in Young Patients with Turner Syndrome

Wojcik Malgorzata , Ruszala Anna , Janus Dominika , Sztefko Krystyna , Starzyk Jerzy B.

Background: Liver tests abnormalities are common in adult patients with Turner Syndrome (TS). The data regarding liver tests in children and adolescents with TS remain lacking.Design and patients: A cross-sectional review of liver function of 100 girls with TS (age range 4–16, the mean BMI SDS 0.63 [−1,86 −6,78]); 56 receiving rhGH therapy (9 obese, 47 normal weight), and 44 receiving rhGH therapy and estrogen or estrogen/progesterone ho...

hrp0089p3-p286 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Post-Traumatic Hypopituitarism Caused by Pituitary Stalk Transection

Ruszała Anna , Wojcik Małgorzata , Krystynowicz Andrzej , Wyrobek Łukasz , Starzyk Jerzy B

Common cause of hypopituitarism is congenital, genetically determined abnormality called pituitary stalk interruption syndrome (PSIS). It is characterised by hypoplastic anterior pituitary gland with thin or absent infundibulum and ectopic posterior pituitary location in MRI examination. Post-traumatic hypopituitarism may mimic this image. We present 7 years and 10 months old girl who was admitted to Pediatrics Institute due to hypoglycemia during an acute gastroenteritis. Hyp...

hrp0086rfc4.3 | Pathophysiology of Obesity | ESPE2016

Early Growth Patterns are Associated with Alterations in Adipocytokine Levels and Fat Distribution Measured by DXA in 982 Children/Adolescents

Tinggaard Jeanette , Thankamony Ajay , Jensen Rikke B , Main Katharina M , Juul Anders

Background: Early growth trajectories are associated with childhood BMI and fat distribution as well as adulthood type 2 diabetes. Mechanisms by which early growth determines later adiposity remain unclear, but the effect may be mediated through adipocytokines.Objective and hypotheses: We describe the association between infant growth, adolescent fat distribution and serum adipocytokines. We hypothesize that poor or rapid early growth is associated with ...

hrp0086p1-p600 | Growth P1 | ESPE2016

The Influence of Recombinant Human Growth Hormone Treatment on Very Small Embryonic/Epiblast Like Stem Cells

Wedrychowicz Anna , Sielatycka Katarzyna , Kubis Ewa , Roztoczynska Dorota , Starzyk Jerzy B. , Ratajczak Mariusz Z.

Background: Present knowledge on the effects of growth hormone (GH) on aging and lifespan are controversial. Clinical data indicate that normal or high levels of GH may accelerate aging and increase the risk of cardio-vascular diseases. Very small embryonic-like stem cells (VSELs) are a population of developmentally early stem cells residing in adult tissues, which could have the potential role in aging and organ rejuvenation.Objective: The aim of the st...