hrp0089p2-p186 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Potentially Modifiable Predictors of Adverse Neonatal Outcomes in Women with Gestational Diabetes Mellitus (GDM)

Antoniou Maria-Christina , Gilbert Leah , Fischer Fumeaux Celine , Gross Justine , Lanzi Stefano , Vial Yvan , Puder Jardena

Introduction: GDM prevalence is increasing worldwide. The aim of the study was to identify potentially modifiable predictors of adverse neonatal outcomes in women with GDM.Methods: This prospective observational study included 576 singleton multiethnic women diagnosed with GDM after 13 weeks of gestational age, followed in the Diabetes and Pregnancy Unit of the CHUV between 4/2012 and 2/2017. Predictors included HbA1c at booking after GDM diagnosis and a...

hrp0098p2-345 | Late Breaking | ESPE2024

Association between maternal and fetal Small Chain Fatty Acids and offspring anthropometry during the first year of life in pregnancies with GDM: MySweetheart study

Antoniou Maria-Christina , Yedu Quansah Dan , Schenk Sybille , Horsch Antje , Mansuy-Aubert Virginie , Jacqueline Puder Jardena

Introduction: Gestational diabetes mellitus (GDM) is often accompanied by gut dysbiosis, which typically includes a decrease in short chain fatty acid (SCFA)-producing genera. Maternal SCFAs have been found to influence placental immunometabolism and fetal development. The aims of this study were: a) to investigate the associations between maternal and fetal (cord blood-umbilical artery) SCFA levels and offspring anthropometry during the first year of life in ...

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...

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 ...

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...

hrp0098rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Comparison of two automated bone age evaluation methods in pediatric patients with growth and puberty disorders

Lore Ruiz Arana Inge , Lechanteur Victor , Busiah Kanetee , Bouthors Thérèse , Christina Antoniou Maria , Stoppa Sophie , Ruspa Martina , Alamo Leonor , Hauschild Michael

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

hrp0097lb20 | Late Breaking | ESPE2023

Turner Syndrome: Skin, Liver, Eyes, Dental and ENT assessments should be improved

Lam Jenny , Stoppa-Vaucher Sophie , Cristina Antoniou Maria , Bouthors Thérèse , Ruiz Inge , Gawlik Aneta , Pitteloud Nelly , Hauschild Michael , Busiah Kanetee

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

hrp0097rfc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes

de Azevedo Correa Fernanda , Habibi Imen , Kolesinska Zofia , Zouaghi Yassine , Zhai Jing , Phan-Hug Franziska , Antoniou Maria-Chiristina , Pignatelli Duarte , Lang-Muritano Mariarosaria , Marek Niedziela , l'Allemands Dagmar , Papadakis Georgios , Ameti Adelina , Messina Andrea , J. Niederlander Nicolas , Boizot Alexia , Santoni Federico , S. Acierno James , Pitteloud Nelly

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

hrp0095p1-362 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Negative impact of brain tumors on the neurocognitive functions of childhood cancer survivors

Mavrea Kalliopi , Katsibardi Aikaterini , Roka Kleoniki , Pons Roser , Antoniou Alexandros-Stamatios , Kanaka-Gantenbein Christina , Kattamis Antonis , Bacopoulou Flora

Introduction – Scope: Childhood cancer has an impact on the neurocognitive functions of growing children and adolescents. The aim of this study, which is the first of its kind in Greece, was to examine the differences in neurocognitive abilities between children and adolescents survivors of brain tumors (BT), and survivors of other types of cancer.Method: Study participants were cancer survivors aged 7 to 15 years,...