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...

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 ...

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....

hrp0086p2-p517 | Fat Metabolism and Obesity P2 | ESPE2016

Polycystic Ovarian Syndrome in a Population of Obese Adolescents

Elowe-Gruau Eglantine , Ameti Adelina , Gonzalez Elena , Vial Yvan , Renteria Saira-Christine , Bouthors Therese , Borloz Sylvie , Puder Jardena , Stoppa-Vaucher Sophie , Phan-Hug Franziska , Dwyer Andrew , Hauschild Michael , Pitteloud Nelly

Background: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among women of reproductive age with a prevalence of about 8% according to the Androgen Excess Society (AES) criteria. The pathophysiology of PCOS is not well understood and it is associated with a high prevalence of metabolic disorders. During puberty, irregular menses and acne are common, thus making the diagnosis of PCOS in adolescence challenging.Objective and hypothe...

hrp0084p2-257 | Diabetes | ESPE2015

Developing a Targeted, Mobile-Health Technology (E-Book) to Promote Self-Care During Diabetes Transition

Dwyer Andrew , Unal Samaita , Emmanouilidis Severine , Aquarone-Vaucher Marie-Paule , Pichard Silvia , Gyuriga Teresa , Korpes Joelle , Jornayvaz Francois , Gonzalez-Rodriguez Elena , Elowe-Gruau Eglantine , Stoppa Sophie , Zanchi-Delacretaz Anne , Puder Jardena , Amati Francesca , Bouthors Therese , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...