hrp0089p3-p410 | Multisystem Endocrine Disorders P3 | ESPE2018

A Novel Detrimental Homozygous Mutation of WFS1 Gene in Two Sisters from Non-consanguineous Parents with Untreated Diabetes Insipidus

Papadimitriou Dimitrios T , Kleanthous Kleanthis , Manolakos Emmanouil , Tiulpakov Anatoly , Nikolopoulos Thomas , Delides Alexandros , Voros Gerasimos , Dinopoulos Argyrios , Zoupanos George , Urano Fumihiko

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...

hrp0086rfc8.1 | Growth: Clinical | ESPE2016

Somavaratan (VRS-317) Treatment of Children with Growth Hormone Deficiency (GHD): Results at 2 Years (NCT02068521)

Bright George , Moore Wayne V. , Nguyen Huong Jil , Kletter Gad B. , Miller Bradley S. , Fechner Patricia Y. , Ng David , Humphriss Eric , Cleland Jeffrey L.

Background: Somavaratan, a novel long-acting rhGH fusion protein with t1/2>100 h, previously demonstrated clinically meaningful improvements in height velocity (HV) and IGF-I in prepubertal GHD children (Moore JCEM 2016).Objective and hypotheses: To evaluate maintenance of somavaratan treatment effects in the 2nd treatment year.Method: After subcutaneous pediatric doses were evaluated in a single dose PK/PD study (<e...

hrp0082p1-d3-171 | Growth (2) | ESPE2014

Safety and Efficacy Results of a 6 Month, Randomized, Multi-Center Trial of a Novel Long-Acting rhGH (VRS-317) in Naïve to Treatment, Pre-Pubertal Children with GH Deficiency

Bright George M , Moore Wayne V , Nguyen H Q , Kletter Gad B , Miller Bradley S , Rogers Douglas G , Humphriss Eric , Cleland Jeffrey

Background: VRS-317, a novel fusion protein of rhGH, was safe and well tolerated in single dose studies of adults and children with growth harmone deficiency (GHD).Objectives: Conduct a 6-month study to determine the safety, tolerability, height velocity and IGF1 response in GHD children.Methods: 64 subjects were randomized into three arms to evaluate monthly, semi-monthly and weekly dosing.Results: At VRS-31...

hrp0084p3-883 | Fat | ESPE2015

Investigating Predisposing Factors for Childhood Obesity

Magana Maria , Routsi Kleopatra , Zyga Sofia , Panoutsopoulos George , Ioannidis Anastasios , Tsironi Maria , Pistikou Anna-Maria , Kougioumtzi-Dimoliani Dafni-Eleni , Kolovos Petros , Gil Andrea Paola Rojas

Background: Childhood obesity is considered to be an epidemic in developed countries that can negatively affect children’s health and psychology.Aims and objectives: To investigate the nutritional and environmental factors that lead to the presence of childhood obesity and its complications.Methods: A total of 949 students, 3–12 years old, living in Sparta–Greece, have participated in our research. Their lifestyle an...

hrp0084lbp-1267 | Late Breaking Posters | ESPE2015

Safety and Efficacy of Long-Acting GH (VRS-317) in Children with GHD: Effects of Dose Change in the Second Treatment Year

Bright George , Moore Wayne V , Nguyen Huong Jil , Kletter Gad B , Miller Bradley S , Fechner Patricia Y , Ng David , Humphriss Eric , Cleland Jeffrey L

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...

hrp0094fc5.2 | Sex Development and Gender Incongruence | ESPE2021

Unexpected impact of sex hormones on B-cells in trans- and cis-gendered healthy young people

Peckham Hannah , Rosser Elizabeth C , Radziszewska Anna , Robinson George , Martin-Gutierrez Lucia , De Gruijter Nina M , Jury Elizabeth C , Butler Gary E , Ciurtin Coziana ,

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

hrp0097p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.

Statha Eleni , Paltoglou George , Doulgeraki Artemis , Vakali Eleni , Vlachopapadopoulou Elpis , Economou Stavroula , Sakou Irini-Ikbale , Soldatou Alexandra , Karavanaki Kyriaki , Frysira Elena

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...

hrp0095p1-284 | Fat, Metabolism and Obesity | ESPE2022

Impact of bariatric surgery on newborn growth parameters.

Rayen Aoun , Georges Nicolas

Background: Maternal obesity is known to have many detrimental effects on pregnancy. Bariatric surgery represents the most efficient therapy for severe obesity. Although it is known to positively impact many pregnancy outcomes, bariatric surgery can disturb fetal growth due to nutritional deficiencies.Objective: We aim to examine the repercussions of bariatric techniques on fetal growth, and to evaluate the risk of deliv...

hrp0097p1-84 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Impact of bariatric surgery on newborn growth parameters

Nicolas Georges , Aoun Rayen

Keywords: Bariatric surgery, Pregnancy, Maternal obesity, Small for gestational age, fetal growth, Nutritional deficiencies.Background: Maternal obesity is known to have many detrimental effects on pregnancy. Bariatric surgery represents the most efficient therapy for severe obesity. Although it is known to positively impact many pregnancy outcomes, bariatric surgery can disturb fetal growth due to nutritional deficienci...

hrp0097p1-94 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Thyroid function in small for gestational age and appropriate for gestational age preterm infants admited to the NICU at Notre Dame Des Secours - University Medical Center

Nicolas Georges , Achkar Joy

Keywords: Preterm newborn, Small for gestational age, Thyroid hormones, Thyroid-stimulating hormone, Thyroid dysfunctions, Thyroid function tests.Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being a...