hrp0084p2-353 | Fat | ESPE2015

A New Mutation of PCSK1 Revealed by Neonatal Malabsorptive Diarrhoea, Panhypopituitarism, and Major Obesity

Bouhours-Nouet Natacha , Donzeau Aurelie , Decrequy Anne , Goideau Marion , Ziegler Alban , Colin Estelle , Bonneau Dominique , Coutant Regis

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...

hrp0084p2-370 | Fat | ESPE2015

Information Technology Supported Treatment of Obese Children and Their Families: A Pilot Study

Lallemand Dagmar , Kowatsch Tobias , Pletikosa Irena , Brogle Bjorn , Dintheer Anneco , Wiegand Dunja , Durrer Dominique , Maass Wolfgang , Buchter Dirk

Background: Multiprofessional therapy programs for obese children and their families, including physical activity, nutritional, and behavioral interventions, have been shown to be effective, in group (MGP) as well as in individual (MIT) settings. However, due to limited personal and financial resources, <1% of children affected participate in such programs.Objective and hypotheses: Health IT systems (HIS) have the potential to improve therapy assisti...

hrp0097p1-490 | GH and IGFs | ESPE2023

Phenotype and genotype of children with biallelic GHRHR gene mutations: a Belgian case series

Van de Velde Simone , Boros Emese , Brunelle Chloë , Beckers Dominique , De Schepper Jean , Thomas Muriel , Heinrichs Claudine , Brachet Cécile

Background: Children with biallelic GHRHR gene pathogenic variants share a phenotype of growth failure starting in infancy and resulting in a proportionate short stature and bone age delay due to a complete isolated growth hormone (GH) deficiency. The genotype ranges from rare promotor mutations to the more frequent splicing mutations, some genotypes being specific to certain geographic areas. Diagnosis is mainly made around the age of 7 years and more often i...

hrp0097p1-311 | Growth and Syndromes | ESPE2023

Management of rhGH treatment in children with CKD in current clinical practice: a multicentric study

Labey Séverine , Hogan Julien , Salomon Rémi , Ulinski Tim , Boizeau Priscilla , Carel Jean-Claude , Simon Dominique

Introduction: Growth retardation < –2 SDS is frequently observed in children with chronic kidney disease (CKD) and is a marker of severity of CKD. Recombinant human growth hormone (rhGH) treatment has been approved since 1995 in CKD patients. The aim of this study was to describe the growth outcomes and treatment patterns in children with congenital CKD.Methods: Patients were recruited from transplantation recor...

hrp0092rfc3.2 | Multi-system Endocrine Disorders | ESPE2019

Factors Affecting Loss to Follow-Up for Patients with Chronic Endocrine Conditions During the Pediatric Period: A Cohort Study at a Reference Center for Rare Diseases

Atger-Lallier Laura , Guilmin-Crepon Sophie , Boizeau Priscilla , Zenaty Delphine , Simon Dominique , Paulsen Anne , Martinerie Laetitia , Storey Caroline , Carel Jean-Claude , Leger Juliane

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

hrp0089rfc9.5 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders

Wannes Selmen , El Maleh Monique , De Roux Nicolas , Zenaty Delphine , Simon Dominique , Martinerie Laetitia , Storey Caroline , Gelwane Georges , Paulsen Anne , Ecosse Emmanuel , Jean-claude Carel , Juliane Leger

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

hrp0089p1-p119 | Fat, Metabolism and Obesity P1 | ESPE2018

Telemedicine Therapy for Overweight Adolescents: First Results of a Novel Smartphone App Intervention Using a Behavioural Health Platform

Heldt Katrin , Buchter Dirk , Brogle Bjorn , Chen-Hsuan Iris Shih , Ruegger Dominik , Filler Andreas , Gindrat Pauline , Durrer Dominique , Farpour-Lambert Nathalie , Kowatsch Tobias , l'Allemand Dagmar

Introduction: Despite improved therapy measures since 2014 the prevalence of overweight and obesity in Swiss adolescence stabilized on 19%. Particular challenges are lack of adherence to therapy in youth who are in difficult life situations or live further from specified centres. Therefore it is essential to find simple and novel therapeutic approaches. But although the number of digital based health information systems increases steadily, the effectiveness in reaching long te...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

hrp0089p2-p382 | Thyroid P2 | ESPE2018

Neonatal Monitoring of Newborns Born from Mothers with Graves’ Disease: Results of a Retrospective Monocentric Study

Dumaine Cecile , Crepon Sophie Guilmin , Pages Justine , Chevenne Didier , Rosenblatt Jonathan , Storey Caroline , Martinerie Laetitia , Carel Jean-Claude , Zenaty Delphine , Leger Juliane , Simon Dominique

Background: Neonates born from mothers with Graves’ disease are at risk to develop hyperthyroidism due to placental transmission of TSH-receptor antibodies. Neonatal hyperthyroidism should be effectively diagnosed and treated to prevent severe complications of this disease (cardiac symptoms, poor weight gain, severe neurological manifestations).Objectives: To describe the post-natal follow-up of neonates born from women with Graves’ disease.</p...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...