hrp0094p2-87 | Bone, growth plate and mineral metabolism | ESPE2021

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Toledo Arthur H. T. , Diesendruck Benjamin , Rodrigues Marcela , Baches Jorge Rafael , Akkari Miguel , Santili Claudio , Baratela Wagner A. R. , Goiano Ellen de Oliveira , Malaquias Alexsandra C. ,

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

hrp0094p2-121 | Diabetes and insulin | ESPE2021

The effect of glycemic variability on DNA damage in pediatric patients with type 1 Diabetes Mellitus

Gokmen Gokhan , Altincik Ayca , Kılıc Erkek Ozgen , Tunc Ata Melek , Kılınc Toprak Emine , Kucukatay Vural , Ozhan Bayram ,

Increased glycemic variability is an important risk factor in terms of complications independent of HbA1c. The aim of this study was; to investigate the relationship between continuous glucose monitoring system (CGMS) indices and clinical data, to investigate DNA damage in patients with diabetes and to evaluate the effect of glycemic variability on DNA damage. Fifty patients with T1DM, aged under 18 years old, who were followed up at least one year in Pediatric Endocrinology D...

hrp0094p2-221 | Fat, metabolism and obesity | ESPE2021

“Sleep Properly, Reduce Intake, aNd Get Stepping” (SPRINGS): a multidisciplinary approach to managing paediatric morbid obesity with severe obstructive sleep apnoea

Hawton Katherine , Oakley uliette , Welsh Kathryn , Kilpin Kate , McLean Cal , Easter Shelley , Langton Hewer Simon C , Hamilton Shield Julian P , Giri Dinesh ,

Introduction: Paediatric morbid obesity (BMI >99.6th centile for age) causes severe obstructive sleep apnoea (OSA) requiring respiratory support. Patient prognosis is poor and requires urgent intervention. Four patients with morbid obesity and severe OSA were admitted for multidisciplinary team (MDT) intensive weight management and continuous positive airway pressure (CPAP) initiation.Methods: The patients...

hrp0094p2-308 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Weiss Birgit , Eberle Birgit , Roeth Ralph , de Bruin Christiaan , Lui Julian C , Paramasivam Nagarajan , Hinderhofer Katrin , van Duyvenvoorde Hermine A , Baron Jeffrey , Wit Jan M , Rappold Gudrun A ,

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

hrp0097fc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Analysis of ligand- and mutation-dependent signaling of the melanocortin 4 receptor (MC4R): an example of the relevance of differential signaling (bias signaling)

Ruck Lisa , Paisdzior Sarah , Scheerer Patrick , Wiegand Susanna , Kleinau Gunnar , A. Heyder Nicolas , G. Beck-Sickinger Annette , C. Troll Manuel , Biebermann Heike , Kühnen Peter

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...

hrp0097fc8.5 | Fat, metabolism and obesity 2 | ESPE2023

Impact of Setmelanotide on Metabolic Syndrome Risk in Pediatric Patients With POMC and LEPR Deficiency

Wabitsch Martin , K. Chung Wendy , Kühnen Peter , Swain James , C. Garrison Jill , Touchot Nicolas , Argente Jesús , Clément Karine

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

hrp0097fc14.5 | Late Breaking | ESPE2023

Predicting Average IGF-I Concentration for Once-Weekly Somapacitan in Children with Growth Hormone Deficiency

F. Backeljauw Philippe , Kamal Lyauk Yassine , C. Blair Joanne , S. Miller Bradley , Mori Jun , Højby Rasmussen Michael , Juul Kildemoes Rasmus

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

hrp0097rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Identification of novel genes including NAV2 associated with isolated tall stature

Weiss Birgit , Ott Tim , Vick Philipp , C. Lui Julian , Vogel Sebastian , Roeth Ralph , Waldmüller Stephan , Hoffmann Sandra , Baron Jeffrey , Wit jan-Maarten , Rappold Gudrun

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

hrp0097p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The awakening of the hypothalamic-pituitary-gonadal axis in the post-COVID era; the Greek experience.

Hatziagapiou Kyriaki , Anargyros Vasilakis Ioannis- , Binou Maria , Dolianiti Maria , C. Nicolaides Nicolas , Zoumakis Emmanouil , Papathanasiou Chryssanthi , Gkougkouli Eleni , Barouti Konstantina , Kanaka-Gantenbein Christina , D. Sakka Sophia

Background: Puberty onset results from the interplay between genetic and environmental factors. During COVID-19 pandemic, children experienced epidemic-related changes, such as stress, sedentary lifestyle, excessive use of electronic devices, all leading to weight gain.Objective: The aim of our study is to retrospectively evaluate the incidence of premature activation of the hypothalamic-pituitary-gonadal axis, as eviden...

hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...