hrp0082p2-d3-492 | Endocrine Oncology | ESPE2014

Autoimmune Polyglandular Syndrome in a Patient with Tuberous Sclerosis

Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder involving many organ systems. The frequency of TS is around one per 5000 to 10 000 live births and is caused by mutation in the TSC1 or TSC2 genes. Autoimmune polyglandular syndrome type 2 (APS2) is an endocrinopathy characterized by two or more autoimmune diseases. Several susceptibility genes are known. The prevalence of APS2 is around 1:20 000.Object...

hrp0089p3-p309 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

GLP-1 Receptor Agonist in a Patient with Craniopharyngioma-Related Obesity

Antoniou Maria-Christina , Diaz-Escagedo Patricia , Bouthors Therese , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Messerer Mahmoud , Hauschild Michael

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

hrp0086p2-p658 | Growth P2 | ESPE2016

Early Diagnosis and Treatment of a Newborn with POU1F1 Mutation

Bouthors Therese , Antoniou Marie-Christina , Dwyer Andrew , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

hrp0082p1-d3-86 | Diabetes (2) | ESPE2014

Implementation of Effective Transition from Paediatric to Adult Diabetes Care with an Outpatient Transition Nurse

Elowe-Gruau Eglantine , Aquarone Marie-Paule , Schluter Virginie , Stoppa-Vaucher Sophie , Phan-Hug Franziska , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Intensive support to facilitate coping and self-care skills is advocated. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services.Objective and hypotheses: While centres providing structured integrated paediatric and adult care seem optimal, many patients op...

hrp0084p2-534 | Puberty | ESPE2015

Evaluation of Body Proportions in Children with Precocious or Delayed Puberty

Wagner Anaelle , Phan-Hug Franziska , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Dwyer Andrew , Pichard Silvia , Pitteloud Nelly , Hauschild Michael

Background: Over the past 20 years there is growing evidence that onset of puberty and changes in body proportions occur at an earlier age, especially in girls. Several studies have suggested this trend is linked to increasing rates of overweight and obese children. However, data on delayed pubertal trends are scant.Objective and hypotheses: To characterize body proportions of children evaluated for pubertal disorders.Method: Retro...

hrp0092p1-424 | Thyroid (2) | ESPE2019

Transition for Patients with Chronic Thyroid Diseases

Ratnasabapathy Piriya , Bouthors Thérèse , Antoniou Maria-Christina , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Busiah Kanetee , Hauschild Michael

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

hrp0089p1-p083 | Diabetes & Insulin P1 | ESPE2018

HERV-W-Env Protein Expression in Pediatric Type 1 Diabetes Patients

Bouthors Therese , Elowe-Gruau Eglantine , Diaz-Escagedo Patricia , Antoniou Maria-Christina , Stoppa-Vaucher Sophie , Levet Sandrine , Medina Julie , Demolder Amandine , Perron Herve , Hauschild Michael

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

hrp0089p2-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Current Medical Care of Children and Adolescents with Disorders/differences of Sex Development in Switzerland

Sommer Grit , Konrad Daniel , Kuhlmann Beatrice , l'Allemand Dagmar , Phan-Hug Franziska , Hauschild Michael , Schwitzgebel Valerie , Tonella Paolo , Hess Melanie , Zumsteg Urs , Lauber-Biason Anna , Flueck Christa E.

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...

hrp0086p2-p763 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Novel CHD7 Mutation in an Adolescent Presenting with Pubertal and Growth Delay

Antoniou Maria-Christina , Bouthors Therese , Xu Cheng , Phan-Hug Franziska , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Cassatella Daniele , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

hrp0084p3-872 | Fat | ESPE2015

Evaluation of Alternatives to OGTT to Assess Glucose Intolerance and Diabetes in an Obese Paediatric Population

Elowe-Gruau Eglantine , Bouthors Therese , Vadnai Gael , Buzduga Mihaela , Laufer Daniel , Decarli Manuela , Borloz Sylvie , Stoppa-Vaucher Sophie , Phan-Hug Franziska , Hauschild Michael , Pitteloud Nelly

Background: Screening for glucose intolerance (GI) or type 2 diabetes (T2D) is recommended for obese children over 10 years of age (or onset of puberty) in the presence of ≧2 of the following risk factors: family history of T2D in a first- or second-degree relative, high risk ethnicity, signs of insulin resistance (IR) or associated conditions, or maternal gestational diabetes. The diagnostic importance of HbA1C levels is still controversial in children and adolescents....