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...

hrp0089p1-p140 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Sexual Dimorphism of IGF1 and IGF2 Expression in the Neonatal Rat Brain

Guerra-Cantero Santiago , Torrecilla Marta , Diaz Francisca , Argente Jesus , Chowen Julie

Insulin-like growth factor (IGF) 2 plays a fundamental role in prenatal growth and development. The IGF2 gene is imprinted, with the paternally inherited copy being active and the maternal copy being silenced in most tissues. During development, the expression of IGF2 is sexually dimorphic in some tissues and this is thought to be involved in the development of some sexually dimorphic features. For example, IGF2 expression is reported to be higher in the male brain co...

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 & 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-p382 | Gonads &amp; DSD P1 | ESPE2016

Normalization of Ovulation Rate in Adolescent Girls with Hyperinsulinemic Androgen Excess

Ibanez Lourdes , del Rio Luis , Diaz Marta , Sebastiani Giorgia , Lopez-Bermejo Abel , de Zegher Francis

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

hrp0086p1-p442 | Fat Metabolism and Obesity P1 | ESPE2016

Placental and Cord Blood DNA Methylation Profiling in Small-for-Gestational-Age Newborns from Uncomplicated Pregnancies: Relationship to Prenatal Growth and Postnatal Body Composition

Diaz Marta , Garcia Cristina , Sebastiani Giorgia , Garcia Francesc , Lopez-Bermejo Abel , Ibanez Lourdes

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

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...