hrp0086rfc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Abnormal Videofluoroscopic Swallow Studies (VFSS) in Infants with Prader-Willi Syndrome Indicate a High Rate of Silent Aspiration

Salehi Parisa , Chen Maida , Beck Anita , McAfee Amber , Kim Soo-Jeong , Herzig Lisa , Leavitt Anne

Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...

hrp0095pl1 | Copeptin in Vasopressin-dependent fluid disorders | ESPE2022

Copeptin in vasopressin-dependent fluid disorders

Christ-Crain Mirjam

This talk will discuss general issues about Copeptin, (e.g. physiology, normal values in children and adults), and the value of Copeptin in vasopressin-dependent fluid disorders, i.e. in patients with diabetes insipidus on the one hand and in patients with the syndrome of inappropriate antidiuresis (SIAD) on the other side. Arginine Vasopressin (AVP) is a peptide composed of 9 amino acids that is synthesized in the hypothalamus. The physiological function of AVP is homeostasis...

hrp0095p1-8 | Adrenals and HPA Axis | ESPE2022

Evolution of the Short Synacthen Test over a decade - a single UK centre’s experience

Ross Callum , Craig Jessica , Hariprasad Anu-Sree , Auckland Isobel , Colyer Sharon , Elder Charlotte

Background: The Short Synacthen Test (SST) is the most popular test of adrenal insufficiency (AI) worldwide. The current SST protocol at Sheffield Children’s Hospital (SCH), UK, recommends measurement of serum cortisol at baseline, then 30- and 60-minutes post stimulation, with a peak cortisol of >429nmol/l constituting a pass. Our practice has evolved to consider near-pass results as “borderline” and patients may be treated with stress do...

hrp0094p2-430 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A comparison between Androstanolone and Testosterone Enanthate for penile augmentation in patients with idiopathic micropenis

Karrou Marouan , Messaoudi Najoua , Assarrar imane , Rouf Siham , Latrech Hanane

Introduction: Micropenis is defined as an anatomically correct penis that is abnormally short due to a defect in testosterone secretion or action. The length of the stretched penis compared to reference tables such as the Schönefeld curve is the best diagnostic criterion. Size less than -2.5 Standard Deviations (SD) defines micropenis. When the etiological assessment of micropenis does not reveal any abnormality, the diagnosis of idiopathic micropenis is retained. Materi...

hrp0086fc14.3 | Growth : Mechanisms | ESPE2016

CG at the Methylation IGF1 Locus is an Epigenetic Predictor of GH Sensitivity

Ouni Myriam , Castell Anne Laure , Bougneres Pierre

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

hrp0084p3-697 | Diabetes | ESPE2015

Recurrent Ketosis after Prolonged Exercise in Type 1 Diabetes: The Need for Glycogen Replacement Strategies: Case Report

van Albada Mirjam , van Waarde Willie Bakker

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

hrp0095p2-259 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A case of 46, XX female with short stature, primary ovarian insufficiency and kidney dystopia due to two novel mutations in MCM8 gene

Kvaratskhelia Ekaterine , Tkemaladze Tinatin , Chipashvili Mariam , Jorbenadze Maka , Chitaia Guram

Primary ovarian insufficiency (POI) affects about 1% of females under 40 and represents a major cause of female infertility. Approximately one third of POI are of genetic in origin, including FMR1 premutation, Turner syndrome and approximately 60 other genes, involved in development, hormonal signaling, cell division and survival, immunity, and metabolism. MCM8 is a recently discovered gene that plays an important role in homologous recombination and DNA repair and only up to ...

hrp0086fc14.2 | Growth : Mechanisms | ESPE2016

CG Methylation at the IGF1 P2 Promoter is a Major Epigenetic Determinant of Postnatal, Not Foetal Growth

Ouni Myriam , Le Stunff Catherine , Castell Anne Laure , Bougneres Pierre

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...

hrp0082p2-d1-414 | Growth Hormone | ESPE2014

Final Height SDS Gain of GH Treated Children with SHOX Deficiency Describing Observational and Clinical Trial Data

Benabbad Imane , Child Christopher , Carel Jean-Claude , Rosilio Myriam

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...

hrp0098p2-280 | Thyroid | ESPE2024

Neurodevelopmental Outcome in Children with Congenital Hypothyroidism Between 6 to 42 Months of Age – A Cross-Sectional Analytical Study

G Delhikumar C , Mariam Jacob Anju , Mondal Nivedita

Background: Neurological outcomes in congenital hypothyroidism can be optimized by timely diagnosis and treatment. In this study, we compared the neurodevelopmental status of children with congenital hypothyroidism with healthy controls.Methods: This cross-sectional study was performed in southern India between 2022 and 2024 after obtaining ethics approval. The neurodevelopmental outcome of 42 congenital hypothyroidism c...