hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

Mendoza Carolina , Garfias Carolina , Seiltgens Cristian , Silva Ricardo , Hodgson Isabel , Ugarte Francisca , Flanagan Sarah , Ellard Sian , Garcia Hernan

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

hrp0094p2-248 | Growth hormone and IGFs | ESPE2021

Reduction in pappalysin and stanniocalcin levels explain the decrease in IGF-I bioavailability in anorexia nervosa

Martin-Rivada Alvaro , Guerra-Cantera Santiago , Campillo-Calatayud Ana , Camarneiro Ricardo , Graell Montserrat , Barrios Vicente , Argente Jesus ,

Background: Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) are novel regulators of the GH-IGF axis, modulating IGF bioavailability through control of cleavage of IGFBPs and release of IGF from the ternary complex. Changes in the peripheral IGF system, including low IGF concentrations independently of GH secretion, have been reported in scenarios of malnutrition such as anorexia nervosa (AN). The role of pappalysins and stanniocalcins in the pa...

hrp0098p3-281 | Late Breaking | ESPE2024

Cleidocranial dysplasia associated with gh deficiency by auxological criterion: case report

Fernando Arrais Ricardo , Luiza Assunção Dantas Ana , Queiroz Dias do Nascimento Letícia , Saraiva Santos Silva Marina

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

hrp0097lb19 | Late Breaking | ESPE2023

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

Machado Pinto Renata , P Pinto Irene , G Rodovalho Ricardo , de O Silva Lorena , VC Fukushima Lorraine , S Moreira Vanessa , S B de Souza Cristiane

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

hrp0098rfc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Mitochondrial Nicotinamide Nucleotide Transidrogenase (NNT) and NNT-AS1 impairment is associated with worse outcomes in patients with adrenocortical tumors

Faccioli Bodoni Aline , Gutierrez Junier , Gebenlian Juliana , Coeli Laccini Fernanda , Carolina Bueno Ana , Zorzetto Vencio Ricardo , de Castro Margaret , Antonini Sonir

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...

hrp0098p1-269 | Growth and Syndromes 4 | ESPE2024

Effect of treatment with Isotretinoin on early bone maturation: A Case Report

Scheidemantel Aline , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , de Lima Carlesso Gabriela , Ricardo Azevedo Silva João , da Silva Almeida Karina , Cardoso-Demartini Adriane

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...

hrp0095p1-66 | Fat, Metabolism and Obesity | ESPE2022

Effect of gender and age on the mental well-being and self-esteem of adolescents living with obesity: subanalysis from the ACTION Teens global study

Pedro López Siguero Juan , A. Baur Louise , Bereket Abdullah , Bin-Abbas Bassam , Chen Walter , Fernández-Aranda Fernando , Garibay Nieto Nayely , C.G. Halford Jason , Maffeis Claudio , Mooney Vicki , Karenina Osorto Cynthia , Reynoso Ricardo , Rhie Young-Jun , Toro-Ramos Martín

Background: The ACTION Teens study aimed to identify attitudes, behaviours and perceptions among adolescents living with obesity (ALwO), caregivers of ALwO (CGs) and healthcare professionals (HCPs) who treat ALwO. This subanalysis assessed the mental well-being and self-esteem of ALwO.Methods: ACTION Teens was a global, cross-sectional study (NCT05013359) that surveyed 5275 ALwO (aged 12–<18 years), 5389 CGs and...

hrp0095p1-67 | Fat, Metabolism and Obesity | ESPE2022

Effect of unawareness of obesity on perceptions of obesity and food/diet among adolescents living with obesity and their caregivers: subanalysis from the ACTION Teens global study

Bereket Abdullah , A. Baur Louise , Bin-Abbas Bassam , Chen Walter , Fernández-Aranda Fernando , Garibay Nieto Nayely , C.G. Halford Jason , Pedro López Siguero Juan , Maffeis Claudio , Mooney Vicki , Karenina Osorto Cynthia , Reynoso Ricardo , Rhie Young-Jun , Toro-Ramos Martín

Background: This subanalysis of the ACTION Teens study aimed to explore perceptions of obesity and food/diet among adolescents living with obesity (ALwO) and caregivers of ALwO (CGs) who were unaware of their/their child’s obesity.Methods: The global, cross-sectional ACTION Teens survey study (NCT05013359) assessed perceptions, attitudes and behaviours among 5275 ALwO (aged 12–<18 years), 5389 CGs and 2323...

hrp0092p1-199 | Fat, Metabolism and Obesity (1) | ESPE2019

Non-Alcoholic Fatty Liver Youth with Obesity

Ybarra Marina , Deboni Mariana , Franco Ruth Rocha , de Araújo Iana Manuelle , D'Alessandro Marcela Salum , Cominato Louise , Velhote Manoel Carlos Prieto , Sucena Silvia , Wang Marcia , Damiani Durval , Toma Ricardo Katsuya , Porta Gilda

Background: Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease which occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population. NAFLD can be divided into non-alcoholic fatty liver (NAFL), which denotes bland steatosis, and non-alcoholic steatohepatitis (NASH), which is marked by steatosis and lobular inflammation and hepatoce...