hrp0089p1-p040 | Diabetes & Insulin P1 | ESPE2018

Poor Metabolic Control in Children and Adolescents with Type 1 Diabetes and Psychiatric Comorbidity

Sildorf Stine M , Breinegaard Nina , Lindkvist Emilie B , Tolstrup Janne S , Boisen Kirsten A , Teilmann Grete K , Skovgaard Anne Mette , Svensson Jannet

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

hrp0086p1-p6 | Adrenal P1 | ESPE2016

Novel CYP11A1 Mutations in 15 Patients (13 Families) with Variable Clinical Presentations

Goursaud Claire , Roucher-Boulez Florence , Mallet-Motak Delphine , Brauner Raja , Gay Claire Lise , Garcia Ana Mercedes , Lienhardt-Roussie Anne , Jennane Farida , Azar Maryam Razzaghy , Morel Yves

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

hrp0082p1-d3-125 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Impairment of Adipose Tissue in Prader–Willi Syndrome Rescued by GH Treatment

Cadoudal Thomas , Diene Gwenaelle , Sengenes Coralie , Molinas Catherine , Desneulin Flavie , Eddiry Sanaa , Conte Auriol Francoise , Daviaud Daniele , Bouloumie Anne , Pierre Salles Jean , Valet Philippe , Tauber Maithe

Background: Prader–Willi syndrome (PWS) results from abnormalities in the genomic imprinting process leading to hypothalamic dysfunction with an alteration of GH secretion. PWS is associated with early morbid obesity and short stature which can be efficiently improved with GH treatment.Objective and hypotheses: Our aims were to highlight adipose tissue structural and functional impairments in young children with PWS and to study the effect of GH tre...

hrp0082p2-d3-354 | Diabetes (2) | ESPE2014

An Infant with a Novel Kir6.2 Mutation Causing Neonatal Diabetes and Unexplained Lack of Response to Sulphonylurea

O'Connell Susan M , Mc Donald Aoife , O'Toole Norma , Bradfield Anne , Bradley Maura , Hattersley Andrew , Ellard Sian , Proks Peter , Mattis Katia K , Ashcroft Frances , O'Riordan Stephen M P

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...

hrp0084fc6.1 | Gonads &amp; DSD | ESPE2015

Correlation of AR Expression and AR Transcriptional Activity in Cultured Human Genital Fibroblasts

Hornig Nadine , Rodens Pascal , Ukat Martin , Demiri Jeta , Eckstein Anne Katrin , van der Horst Christof , Seif Christoph , Ammerpohl Ole , Holterhus Paul-Martin

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...

hrp0084p1-52 | Diabetes | ESPE2015

A Randomised Trial of the Effects of Perinatal Education of Overweight Pregnant Women to Prevent Childhood Overweight: The ETOIG Study

Parat Sophie , Cosson Emmanuel , Baptiste Amandine , Tauber Marie-Therese , Valensi Paul , Bertrand Anne-Marie , Dabbas Myriam , Elie Caroline , Lorenzini Francoise , Negre Veronique

Background: Early-life risk factors of childhood obesity include maternal obesity; smoking, diabetes and high weight gain during pregnancy for the mother; short duration of breastfeeding and poor quality of early feeding in the infants. Perinatal life thus may be a good period for primary prevention.Objective and hypotheses: We aimed to evaluate whether perinatal education of overweight pregnant women would reduce childhood overweight.<p class="abste...

hrp0084p1-65 | DSD | ESPE2015

Subcutaneous Continuous Administration of Recombinant Human Luteinizing and Follicle-Stimulating Hormones is an Effective Treatment for Micropenis During the Mini-Puberty

Stoupa Athanasia , Samara-Boustani Dinane , Flechtner Isabelle , Pinto Graziella , Jourdon Isabelle , Laborde Kathleen , Chevenne Didier , Millischer-Bellaiche Anne-Elodie , Polak Michel , Beltrand Jacques

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

hrp0094fc4.3 | Diabetes | ESPE2021

Aldosterone and pro-atrial natriuretic peptide kinetics in response to rehydration in children with diabetic ketoacidosis

Burckhardt Marie-Anne , Otto Marije , Gotta Verena , Beglinger Svetlana , Bachmann Sara , Hess Melanie , Rentsch Katharina , Koch Gilbert , Davis Elizabeth , Zumsteg Urs , Jones Tim , Pfister Marc , Szinnai Gabor ,

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...

hrp0094p1-57 | Bone B | ESPE2021

High rate of positive genetic findings in children born small for gestational age with persistent short stature (SGA-SS): Growth plate genes as key regulators of intrauterine growth

Toni Ledjona , Plachy Lukas , Dusatkova Petra , Anne Amaratunga Shenali , Kolouskova Stanislava , Obermannova Barbora , Snajderova Marta , Sumnik Zdenek , Pruhova Stepanka , Lebl Jan ,

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...