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...

hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Kodytková Aneta , Anne Amaratunga Shenali , Zemková Daniela , Maratová Klára , Dušátková Petra , Plachý Lukáš , Průhová Štěpánka , Koloušková Stanislava , Lebl Jan

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

hrp0097rfc11.1 | GH and IGFs | ESPE2023

The genetic aetiology of primary multiple pituitary hormone deficiency: a next-generation sequencing analysis of a single-centre cohort.

Plachy Lukas , Dustkova Petra , Maratova Klara , Zemkova Dana , Anne Amaratunga Shenali , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...

hrp0097p1-31 | Diabetes and Insulin | ESPE2023

Metabolic trajectories during treatment of diabetic ketoacidosis described by breath analysis

Awchi Mo , Dev Singh Kapil , Bachmann-Brenner Sara , Burckhardt Marie-Anne , Hess Melanie , Zumsteg Urs , Zeng Jiafa , N. Datta Alexandre , Frey Urs , Szinnai Gabor , Sinues Pablo

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

hrp0098t11 | Top 20 Posters | ESPE2024

Postnatal detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction – potential for newborn screening

Mains Balle Camilla , Launholt Lildballe Dorte , Bedei Ivonne , Skakkebæk Anne , Chang Simon , Enrique Schäfer Ramon , Becker-Follmann Johannes , Højbjerg Gravholt Claus

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

hrp0098p1-152 | GH and IGFs 2 | ESPE2024

Etiology of severe primary isolated growth hormone deficiency: a next-generation sequencing analysis of a single center cohort

Plachy Lukas , Dusatkova Petra , Anne Amaratunga Shenali , Maratova Klara , Zemkova Dana , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Diagnosis of growth hormone (GH) deficiency is known to have unreliable results, especially due to low specificity of GH stimulation tests. Children diagnosed with GH deficiency (GHD) therefore form a heterogeneous group with a cause frequently unrelated to GH secretion or function. On the other hand, children with extremely low maximal stimulated GH concentrations (<3 ug/L) are believed to have “real” GH deficiency (GHD). However,...