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,...

hrp0098p1-192 | Sex Endocrinology and Gonads 2 | ESPE2024

Sex Steroid Metabolite Profile and Gonadotrophins during Hormone Therapy in Transgender Adolescents

Badsberg Norup Pernille , Ewers Haahr Mette , Aslam Mohsin , Giraldi Annamaria , Katrine Pagsberg Anne , Christiansen Peter , Aksglaede Lise , Cleemann Line , Frederiksen Hanne , Johannsen Trine , Juul Anders , Main Katharina

Background & Aim: The national Danish assessment and hormone treatment program for transgender adolescents started in 2016 and follows international guidelines. We aim to investigate the effects of hormone therapy on the sex steroid metabolite profile and gonadotropins.Methods: This observational study includes 219 transgender adolescents who started hormone therapy before 18 years of age comprising 55 individuals as...

hrp0098p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Real-world effectiveness of vosoritide in children with achondroplasia: Results from 18 months follow-up in France

Cormier-Daire Valerie , Edouard Thomas , Isidor Bertrand , Pimenta Jeanne , Mukherjee Swati , Marcos Valeria , Dee Anne , Rossi Massimiliano , Schaefer Elise , Sigaudy Sabine , Baujat Geneviève

Introduction: Achondroplasia is the most common skeletal dysplasia, caused by a pathogenic FGFR3 variant, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was first approved by the European Medicines Agency in August 2021 and is now approved for treating genetically-confirmed achondroplasia in patients aged ≥4 months until closure of epiphys...

hrp0098p2-321 | Late Breaking | ESPE2024

Lipid lowering therapy, LDL- and non-HDL-cholesterol in children and adolescents with type 1 diabetes: An analysis based on the DPV registry

Becker Marianne , Weiskorn Jantje , Kamrath Clemens , Hammersen Johanna , Bechtold-Dalla Pozza Susanna , Müller-Roßberg Elke , Holder Martin , Burckhardt Marie-Anne , Holl Reinhard

Background: Cardiovascular risk factors largely determine morbidity and mortality in people with type 1 diabetes (T1D). Hyperlipidemia, especially in pediatric patients, is often undertreated, although it can lead to premature atherosclerotic changes. While non-HDL-C (non-HDL-cholesterol) is an important risk factor for cardiovascular events in patients with diabetes, guidelines only define LDL-C treatment targets. According to current ISPAD guidelines, childr...