hrp0095p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Severe hypophosphatemia in a girl with vitamin D-dependent rickets type I: a case report

Menichetti Sofia , Ferrari Marta , Stagi Stefano

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

hrp0095p2-169 | Growth and Syndromes | ESPE2022

Response to Treatment with Recombinant Growth Hormone in Children and Adolescents with Short Stature Associated with Noonan Syndrome

Ramon-Krauel Marta , Suárez Ortega Larisa

Introduction: Noonan Syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK pathway. The clinical phenotype is variable; however, short stature is present in more than 80% of cases. Several clinical trials have been conducted over the last decades using recombinant growth hormone (rhGH) in NS to treat short stature demonstrating efficacy and safety which lead to the European Medicines Agency (EMA) approval in 2020.<stron...

hrp0092p3-186 | Multisystem Endocrine Disorders | ESPE2019

Variable Expressivity in Three Generation from a Colombian Family with Multiple Endocrine Neoplasia with Mutation c.482G>A (p.Gly161Asp) in the Gene MEN1 not Described in Colombia

Mejia de Beldjenna Liliana , Diaz Lorena , Vanegas Sara , Perafan Lina , Pachajoa Harry

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...

hrp0089p1-p113 | Fat, Metabolism and Obesity P1 | ESPE2018

Maternal Resveratrol Intake During Pregnancy and Lactation Modulates the Long-term Metabolic Effects of Maternal Nutrition on Offspring Depending on the Sex and Diet

Ros-Perez Purificacion , Diaz Francisca , Freire Alejandra , Argente-Arizon Pilar , Argente Jesus , A. Chowen Julie

Maternal nutrition can have significant long-term consequences on energy homeostasis in the offspring. However, whether resveratrol, with antioxidant and anti-obesity actions, can improve the impact of poor maternal nutrition on offspring metabolism remains largely unknown. We hypothesized that resveratrol intake by dams would protect the offspring against the harmful effects of a maternal high fat diet (HFD). We also determined if resveratrol’s effects are diet and sex d...

hrp0086fc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Evaluation of a Novel Method to Detect Residual ß-Cell Function by Dried Blood Spots in Children and Adolescents with a Recent Diagnosis of Type 1 Diabetes

Willemsen Ruben , Burling Keith , Ackland Fran , Edge Julie , Diaz Renuka , Barker Peter , Guy Catherine , Dunger David

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

hrp0086p1-p129 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Trabecular Bone Score in Children from Mexico City: Preliminary Report

Angel Guagnelli Miguel , Gomez-Diaz Rita , Ambrosi Regina , Winzenrieth Renaud , Clark Patricia

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

hrp0086p2-p161 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Identification of Predictor Factors of Growth Outcome in Children with Hypophosphatemic Rickets

Marin del Barrio Silvia , Sancho Paula Casano , Naderi Ruben Diaz , Cots Jordi Vila

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

hrp0086p1-p447 | Fat Metabolism and Obesity P1 | ESPE2016

Neonatal Overnutrition Causes Sex and Age Dependant Long-Term Effects on Body Weight, Body Composition and Serum Triglyceride and Free Fatty Acid Levels

Argente-Arizon Pilar , Diaz Francisca , Fuente-Martin Esther , Chowen Julie Ann , Argente Jesus

Background: Neonatal over-nutrition (NON) can increase the propensity to become overweight and develop associated metabolic disturbances in later life. Moreover, some of these long-term effects are sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and triglyceride (TG) and non-esterified fatty acids (NEFA) levels. We hypothesized that the effects would be both age and sex dependant.<...

hrp0082fc12.1 | Obesity | ESPE2014

High-Fat Diet Rapidly Triggers Circadian De-Synchronization of Clock Genes, Neuropeptides and Inflammation Mediators in the Hypothalamus of C57BL Mice

Hernandez-Nuno Francisco , Ruiz-Gayo Mariano , Diaz Francisca , Argente Jesus , Chowen Julie A

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

hrp0082p1-d1-64 | Diabetes | ESPE2014

Biomarkers of Subclinical Inflammation in an Infant–Juvenile Population with Type 1 Diabetes

Bazan Maria , Casella Sofia , Lopez Santiago , Carrizo Teresita , Velarde Maria , Diaz Elba , Abregu Adela

Background: Diabetes is associated with increased risk of vascular disease. In children and adolescents with type 1 diabetes (T1D), clinical manifestations of vascular complications are infrequent; however, a pro-inflammatory state and endothelial disturbance could appear early. A subclinical inflammation state result in increased plasma levels of adhesion molecules, inflammatory cytokines as tumor necrosis factor alpha (TNFα), and acute phase proteins as C-reactive prote...