hrp0097fc8.4 | Fat, metabolism and obesity 2 | ESPE2023

Irs1 expression in peripheral blood associates with obesity and cardiovascular risk parameters in school-age girls

Gómez-Vilarrubla Ariadna , Niubó-Pallàs Maria , Mas-Parés Berta , Carreras-Badosa Gemma , Bonmatí Alexandra , Estevez-Reinares Enrique , Martinez-Calcerrada Jose-María , de Zegher Francis , Ibañez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Aim: IRS1 (Insulin Receptor Substrate 1) is involved in the insulin signalling pathway and abnormalities thereof have been related to metabolic disorders and obesity. In obese subjects, insulin resistance has been associated with changes in IRS1 expression in peripheral in blood. Sex-based differences in cardiovascular disease are well established. Previous results from our group disclosed the association between IRS1 placental methylation with ...

hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

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...

hrp0086p1-p479 | Fat Metabolism and Obesity P1 | ESPE2016

Hepatic Steatosis and Cardiovascular Risk in Overweight Children: Preliminary Results of the Study EFIGRO

Diez-Lopez Ignacio , Sarasua Ainhoa , Medrano Maria , Arenaza Lyde , Rodriguez-Vigil Beatriz , Tobalina Ignacio , Larrarte Eider , Perez-Asenjo Javier , Labayen Idoia

Introduction: The accumulation of fat in the liver is a serious complication of childhood obesity seems to be associated with cardiometabolic risk.Objective: To examine the association between fat accumulation in the liver and cardiovascular risk factors in overweight children.Material and methods: In the study 68 children/as (51.4% girls) were overweight or obese (defined according to the classification criteria of the Internation...

hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0082p1-d2-213 | Reproduction (1) | ESPE2014

The Association of Moebius Syndrome and Kallman Syndrome is Due to a Specific Mutation of TUBB3

Amouyal Melanie , Bouvagnet Patrice , Rochette Galliane , de Roux Nicolas

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

hrp0082p1-d3-170 | Growth (2) | ESPE2014

The ZOMATRIP Study: 4 Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Interim Results at the End of the Treatment Phase

Rooman Raoul , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Masa Guy , Lebrethon Marie-Christine , Bourguignon Jean-Pierre , Gies Inge , Van Besien Jesse , De Rycke Christine , De Schepper Jean

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0092p2-105 | Fat, Metabolism and Obesity | ESPE2019

Cardiopulmonary exercise testing, body composition and metabolic status in young adults after allogeneic human stem cell transplantation for hematological malignancy in childhood

De Waele Kathleen , Tack Lloyd , Coomans Ilse , Dhooge Catharina , Bordon Victoria , Toye Kaatje , Cools Martine , Vandekerckhove Kristof

Introduction: Well-known long-term complications of alloHSCT in childhood include endocrine system damage and secondary malignancies. In addition, adults surviving childhood alloHSCT are at risk of cardiovascular (CV) and metabolic disturbances. Long-term data of physical fitness in correlation with metabolic status are scarce in this particular group.Objective/Patients and Methods: Cross-sectional investigation of exerc...

hrp0094p1-166 | Growth B | ESPE2021

The BoneXpert adult height prediction method outperforms the Bayley and Pinneau method in tall male adolescents.

De Schepper Jean , Guisez Tanguy , Wijnand Justine , Cools Martine , Herregods Nele , Marieke den Brinker , Gielen Jan , Ernst Caroline , Gies Inge ,

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...