hrp0084fc2.5 | Bone & Mineral Metabolism | ESPE2015

Methyl Donor Deficiency Impairs Differentiation of Pre-Osteoblasts Through Disruption of Functional Interaction Between Peroxisome Proliferator-Activated Receptor-Gamma Coactivator-1 Alpha and Vitamin D Receptor

Feigerlova Eva , Ghemrawi Rose , Melhelm Hassan , Battaglia-Hsu Shyuefang , Demarquet Lea , Weryha Georges , Rodriguez-Gueant Rosa-Maria , Gueant Jean-Louis

Background: Folate and cobalamin are needed for synthesis of methionine, a substrate of methylation in epigenetic, and epigenomic pathways. Methyl donor deficiency (MDD) leads to hyperhomocysteinemia, which has been related to osteoporosis in humans and disruption of epiphyseal cartilage and bone development in rodents. Recent studies have revealed evidence for association between 25(OH)D3 and homocysteine levels, however, underlying mechanisms remain elusive.<p...

hrp0094fc7.4 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Endocrine sequelae in 157 paediatric survivors of haematopoietic stem cell transplantation

Guemes Maria , Martin-Rivada Alvaro , Arribas Marta Bascuas , Andres Esteban Eva Maria , Angulo Blanca Molina , Argente Jesus ,

Introduction: As successful rates of haematopoietic stem cell transplantation (HSCT) are on the rise, late endocrine and metabolic effects of these survivors have become more prevalent.Aims: We aimed to characterise the endocrine abnormalities observed following HSCT.Subjects and methods: A retrospective descriptive study in paediatric post-HSCT patients (< 18 years-old) follow...

hrp0094p2-188 | Fat, metabolism and obesity | ESPE2021

Development of a predictive normogram to assess the risk of liver steatosis in childhood obesity

Martos-Moreno Gabriel A. , Maria Andres-Esteban Eva , Martinez-Villanueva Julian , Sirvent Sara , Hawkins Federico G. , Argente Jesus ,

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

hrp0098fc12.4 | Thyroid | ESPE2024

Docosahexaenoic acid (DHA) is reduced and could be protective against Hashimoto’s thyroiditis in children with Down syndrome: a cross-sectional study

Cannalire Giuseppe , Bellini Melissa , Gerevini Sofia , Marie Louise Syren Eva , Turolo Stefano , Agostoni Carlo , Elisabeth Street Maria , Biasucci Giacomo

Inflammation is a known feature of Down syndrome (DS) and is caused by a dysregulation between pro and anti-inflammatory cytokines. Hashimoto's thyroiditis (HT) is characterised by a slowly developing persistent inflammation of the thyroid gland which frequently leads to hypothyroidism. In DS children, HT is the most common autoimmune disease ad its prevalence has been reported to be more elevated than that generally seen in age-matched patients without DS: 34% vs 1.3%, r...

hrp0098p1-292 | Thyroid 3 | ESPE2024

Congenital autoimmune thyreoiditis with hypothyroidism: first expression of a STAT-3-associated multisystemic disease with further severe autoimmune manifestations

Ververidou Ourania , Lainka Elke , Kampmann Kristina , Steindor Nora , Schäfer Miriam , Manka Eva , Korsch Eckhard , Kiewert Cordula

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...

hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0095p2-148 | GH and IGFs | ESPE2022

Height Velocity in Indonesian Children Receiving Growth Hormone Therapy

B Pulungan Aman , A Andarie Attika , Lestari Pramesti Dwi

Background: Short stature is one of the most common conditions referred to pediatric endocrinology clinics, and treatment with growth hormone (GH) is useful to improve height velocity and adult height, but response may be variable. Growth hormone therapy is indicated in several conditions in pediatric patients, including growth hormone deficiency (GHD) and children born short for gestational age (SGA). We investigated differences in treatment response in Indon...

hrp0092p1-363 | GH and IGFs (2) | ESPE2019

Metabolism of Somapacitan, a Long-Acting Growth Hormone Derivative, in Human Subjects

Damholt Birgitte B , Bjelke Mads , Helleberg Hans , Rasmussen Michael H

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

hrp0089p2-p277 | Growth &amp; Syndromes P2 | ESPE2018

Pulling the Brakes – ‘Catch Down Growth’: A Phenomenon for Achieving Mid-parental Height Centile After Acquired, All-cause, Brain Injury

Kraus Fabian B T , Hindmarsh Peter C , Spoudeas Helen A

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

hrp0082p2-d3-387 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Enhanced Liver Fibrosis Test in Obese Children with Ultrasound-Proven Steatosis

Sztefko Krystyna , Szybowska Patrycja , Wojcik Malgorzata , Starzyk Jerzy B

Background: Non-alcoholic fatty liver disease (NAFLD) in obese children is a diagnostic challenge. Presently recommended markers of liver steatosis and risk of progression to fibrosis are: ultrasound imaging (US) and liver aminotransferases (ALT and AST). Owing to the poor sensitivity of these tests, there is a need to search for biomarkers which could indicate early stages of NAFLD. The enhanced liver fibrosis test (ELF) based on the combination of serum concentration of hyal...