hrp0097p1-264 | Fat, Metabolism and Obesity | ESPE2023

Implementation of the EOSS-P Risk Scale in children and adolescents living with obesity

Gonzalez Diego , Rodriguez Roberto , Garibay-Nieto Nayely , Villanueva-Ortega Eréndira , Aguilar-Cuarto Karina , Pedraza Karen , Fuentes Zendy , Ruiz Alejandra , María Hernandez Ana , Prado Edith , Ruiz Arturo

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

hrp0089p1-p144 | GH & IGFs P1 | ESPE2018

A New p.(Ile66Serfs*93) IGF2 Variant Is Associated with SRS-like Phenotype

Rockstroh Denise , Pfaffle Heike , Le Duc Diana , Roszler Franziska , Schlensog-Schuster Franziska , Heiker John T , Kratzsch Jurgen , Kiess Wieland , Lemke Johannes , Abou Jamra Rami , Pfaffle Roland

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

hrp0086p1-p117 | Bone & Mineral Metabolism P1 | ESPE2016

No Severe Hypercalcemia During a 12-Month High-Dose Vitamin D Intervention in Infants

Enlund-Cerullo Maria , Valkama Saara , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Viljakainen Heli , Andersson Sture , Makitie Outi

Background: Vitamin D supplementation is widely recommended to infants, but the optimal dose remains unclear. Vitamin D regulates calcium metabolism, and overdosing and high intake may result in hypercalcemia.Objective and hypotheses: We measured serum pH-adjusted ionized calcium (Ca-ion/pH 7.40) concentrations at 6 and 12 months and 25-hydroxyvitamin D (S-25-OHD) at 12 months in order to evaluate the risk of hypercalcemia during vitamin D3 su...

hrp0095p1-91 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Global microRNA and protein expression in human term placenta may improve our understanding of fetal growth

Östling Hanna , Lodefalk Maria , Backman Helena , Kruse Robert

Introduction: The placenta is an endocrine organ vital to fetal growth. It has multiple functions: pregnancy maintenance, nutrient and oxygen transport to the fetus, and removal of waste products among other functions. MicroRNAs (miRNAs) and proteins are significant mediators of these functions. A description of their global expression in healthy placenta may increase our understanding of the molecular biological pathways that are important for normal fetal gr...

hrp0084p2-463 | Growth | ESPE2015

Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

Scaglia Paula , Sala Andrea , Bergada Ignacio , Braslavsky Debora , Keselman Ana , Espinola-Castro Angela , Domene Sabina , Jasper Hector , Corach Daniel , Domene Horacio

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

hrp0097rfc1.4 | Adrenals and HPA Axis | ESPE2023

Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT mutations

Francisco Annelise , Mine Yilmaz Goler Ayse , Daniele Carvalho Navarro Claudia , Onder Asan , Yildiz Melek , Kendir Demirkol Yasemin , Karademir Yilmaz Betul , Seven Menevse Tuba , Guran Tulay , Frigério Castilho Roger

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

hrp0089p3-p137 | Fat, Metabolism and Obesity P3 | ESPE2018

The Level of the Vitamin D and Metabolic Status in Children with Obesity

Mikhno Hanna , Solntsava Anzhalika , Dashkevich Helena

Objective: Determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 212 children in the University Hospital (Minsk) from 2016 to 2018 years. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, insulin, uric acid were determined. All children were divided into 2 groups: group 1 children with morbid obesity – 140 patients (90 boys(B)...

hrp0092p2-111 | Fat, Metabolism and Obesity | ESPE2019

Osteoprotegerin and Metabolic Status in Children with Obesity

Mikhno Hanna , Solntsava Anzhalika , Dashkevich Helena

Objective: determination of changes in metabolic status and osteoprotegerin concentrations in obese children.Methods: We examined 120 children in the University Hospital (Minsk) from 2017 to 2019 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of osteoprotegerin (OPG), insulin were determined. In the biochemical blood test, the parameters of uric acid, insulin we...

hrp0097p1-409 | Adrenals and HPA Axis | ESPE2023

Hydrocortisone (HC) versus Prednisone(P) Therapy in treating Children with Classic Congenital Adrenal Hyperplasia (CAH): Impact on statural growth weight gain and metabolic criteria

El Sayed Shayma , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia , Alaaraj Nada

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

hrp0095p1-296 | GH and IGFs | ESPE2022

No differences in adult height outcome with personalized approach to Growth Hormone dosing– but gender differences were found

Ly Helena-Jamin , Fors Hans , Dahlgren Jovanna

Introduction: The goal of treating short children with growth hormone (GH) is to normalize adult height adjusted for mid parental height (MPH). We obtained adult height data on 87 patients (23 girls, 64 boys) treated with GH who originally participated in a randomized, prospective, open-label clinical trial with either personalized dose based on a prediction model (n=58), or standard dose (n=29). The children were either growth hormone defici...