hrp0084p2-404 | GH & IGF | ESPE2015

The Role of β-TrCP, an E3 Ubiquitin Ligase, in the Signalling of the GH and Epidermal Growth Factor Pathways in Growth Hormone Transduction Defect

Kostopoulou Eirini , Gil Andrea Paola Rojas , Karvela Alexia , Spiliotis Bessie Eugenia

Background: epidermal growth factor (EGF) stimulates cell growth and differentiation through its receptor EGFR. Cross-talking between the GH and EGF signaling pathways is important for normal cellular development. GH transduction defect (GHTD), a clinical disorder characterized by impaired STAT3 phosphorylation due to excessive GHR degradation, is caused by over-expression of the E3 ubiquitin ligase, CIS.Induction of GHTD fibroblasts with 200 ng/ml hGH (GH200) and silencing mR...

hrp0094p1-69 | Diabetes B | ESPE2021

Oxidized lipid-associated protein damage in children and adolescents with type 1 diabetes mellitus: new diagnostic/prognostic clinical markers.

Kostopoulou Eirini , Kalaitzopoulou Electra , Papadea Polyxeni , Skipitari Marianna , Gil Andrea Paola Rojas , Spiliotis Bessie , Georgiou Christos ,

Background: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively),...

hrp0094p2-347 | Pituitary, neuroendocrinology and puberty | ESPE2021

Optic tract glioma and endocrine disorders- comparison between patients with and without NF1- a single center experience

Gil Margolis Merav , Yackobovitz-Gavan Michal , Toledano Hellen , Phillip Moshe , Shalitin Shlomit ,

Background and Aims: Optic pathway gliomas (OPGs) represent 2-5% of brain tumors in children. OPGs are classified by the anatomic location and whether they are associated with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities, including visual dysfunction, neurologic deficits, and endocrine dysfunction. The aim of our study was to assess the prevalence of endocrine dysfunctions in patients with ...

hrp0094p2-362 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypopituitarism: the role of genetics

Gil Poch Estela , Javier Arroyo Diez Francisco , Mendez Perez Pilar , Galan Gomez Enrique ,

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...

hrp0098p1-110 | Adrenals and HPA Axis 2 | ESPE2024

Does timing of Adrenocorticotropic hormone stimulation test matter?

Gil Margolis Merav , Diamant Rotem , Yackobovitch-Gavan Michal , de Vries Liat

Introduction: The ACTH stimulation test is utilized to assess cortisol reserve and when non-classical congenital adrenal hyperplasia is suspected. Limited and conflicting data exist on the impact of the time of the day on cortisol response.Aim: To study the association between peak cortisol response to ACTH test and time of the day it was conducted and to study the clinical parameters affecting this response.<p class...

hrp0098p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Use of denosumab in aneurysmal bone cyst and giant cell tumor in a third-level pediatric center

Feller Ana , Aziz Mariana , Gil Silvia , Nader Julio , Bermejo Natalia , Soria Ianina , Ciaccio Marta , Viterbo Gisela

Introduction: Denosumab is a RANK-L inhibitory monoclonal antibody approved in adults for treatment of aneurysmal bone cyst (ABC) and giant cell tumor (GCT). Although it has shown to improve postsurgical morbidity and stop progression in unresectable forms, there is limited data to guide its use in growing patients, with reports of endocrinology disorders.Aim: Evaluate frequency, presentation and treatment of adverse eff...

hrp0098p2-391 | Late Breaking | ESPE2024

QT Interval Dynamics in Transgender/Gender diverse Adolescents on GnRHa and Gender-Affirming Hormonal Therapy: A Comparative Analysis

Zaitoon Hussein , Kapusta Livia , Israeli Galit , Segev-Becker Anat , Beer Gil , Oren Asaf , Perl Liat

Background: The QT interval, corrected for sex and heart rate (QTc), measures the duration of the cardiac action potential and can indicate the risk of arrhythmias. The QT interval is typically longer in women compared to men; a phenomenon often attributed to estrogen's effects. However, conflicting data exist regarding the effects of gonadotropin-releasing hormone agonist (GnRHa) and gender-affirming hormonal treatment (GAHT) on QT intervals and dispersi...

hrp0092p3-119 | Fat, Metabolism and Obesity | ESPE2019

ESPE 2019. Physical Activity, Food and Metabolic Risk in Children and Adolescents

de Lamas Carmela , Vázquez Rocío , José Bedoya Juan , Aguilera Concepción , Gil-Campos Mercedes , Bueno Gloria , Moreno Luis , Gil Ángel , Leis Rosaura

Introduction:The incidence of obesity increases unstoppably in all populations and at all ages, and with it, the associated metabolic morbidity and mortality. The promotion of physical activity and a healthy diet are the fundamental elements to alleviate this situation. The objective of this study is to determine the relationship of physical activity and eating patterns with body composition, the degree of adiposity and certain metabolic risk factors.<p cl...

hrp0089p3-p146 | Fat, Metabolism and Obesity P3 | ESPE2018

Does the Level of Studies of Parents Influence the Follow-up of the Recommendations of the Nutritional Pyramid?

Rosaura Leis Trabazo Maria , de Lamas Perez Carmela , Vazquez Cobela Rocio , Jose Bedoya Carpente Juan , Olza Meneses Josune , Gil Hernandez Angel , Alberto Moreno Aznar Luis , Bueno Lozano Gloria , Gil Campos Mercedes , Aguilera Garcia Concepcion

Introduction: Several studies show the negative impact of low level of studies of parents on the dietary patterns and the degree of adiposity of their children. The objective of this study is to evaluate the relationship between the level of studies and compliance with the recommendations of healthy eating pyramid.Material and method: An anthropometric study was conducted in 895 Spanish children and adolescents (53% women), between 3 and 18 years old (10...

hrp0086p1-p337 | Gonads &amp; DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...