hrp0095p1-109 | Growth and Syndromes | ESPE2022

Efficiency of The Genetic Study in the Assessment of Short Stature in Pediatrics

Murillo-Vallés Marta , Ros-Peña Andrea , Valls-Llussà Aina , Herrero-Espinet Javier

Introduction: Short stature is a common disorder in children that can become a challenge for clinical and molecular diagnosis. Recent studies in genetics and the implementation of Next-Generation Sequencing (NGS) in growth disorders have demonstrated the great genetic heterogeneity of short stature and the existence of highly varied phenotypes. The absence of homogeneous clinical criteria for conducting studies makes it difficult to evaluate the efficacy of th...

hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

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...

hrp0084p3-859 | Fat | ESPE2015

Long-Term Effects of Neonatal Over-Nutrition on Metabolic Equilibrium are Age and Sex Dependant

Argente-Arizon Pilar , Ros Purificacion , Diaz Francisca , Fuente-Martin Esther , Barrios Vicente , Chowen Julie A , Argente Jesus

Background: Neonatal over-nutrition (NON) can have a long-term effects on energy homeostasis and some of these effects may be sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and cytokine levels throughout development and if these changes are sexually dimorphic. We hypothesised that the effects would be both age and sex dependant.Methods: At birth, Wistar rats wer...

hrp0097p1-385 | Thyroid | ESPE2023

Patients with genetic susceptibility syndromes to thyroid cancer in a tertiary hospital

Andrés Carlos , J. Chueca María , Elcano Leire , Ros Raquel , Berrade Sara , Alonso Angel

The new techniques of molecular genetics are revolutionizing our clinical practice. This causes benefits in the diagnosis and prediction of diseases in patients, but also raises new ethical concerns that must be addressed. One of them is the susceptibility to cancer due to genetic risk. Children can be especially vulnerable in this area, as they do not freely decide the way forward. Regarding thyroid cancer, it is important to know which genetic syndromes are susceptible to ca...

hrp0086p1-p340 | Gonads & DSD P1 | ESPE2016

Intrauterine Growth Restriction Affects Postnatal Testis Maturation in Rats

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Stukenborg Jan-Bernd , Reda Ahmed , Savchuk Iuliia , Kjartansdottir Ros , Cianfarani Stefano , Soder Olle

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...

hrp0094p2-72 | Bone, growth plate and mineral metabolism | ESPE2021

ACAN gene skeletal dysplasia (short size syndrome, with or without advanced bone age and early onset osteoarthritis)

Aguilar Riera Cristina , Arciniegas Larry , Murillo Valles Marta , Ros Pena Andrea , Alvarez Paula Fernandez , Clemente Maria , Yeste Diego ,

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

hrp0092fc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Analysis of Hypothalamic Metabolic Circuits after Normalization of Body Weight in Mice That Had Been Obese Due to High Fat Diet Intake

Guerra-Cantera Santiago , Frago Laura , Ros Purificación , Canelles Sandra , Díaz Francisca , Freire-Regatillo Alejandra , Torrecilla-Parra Marta Marta , Argente Jesús , Chowen Julie A.

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

hrp0092fc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Peripheral and Hypothalamic Alterations in the Insulin-like Growth Factor (IGF) System in Response to High Fat Diet-induced Weight Gain

Guerra-Cantera Santiago , Díaz Francisca , Ros Purificación , Freire-Regatillo Alejandra , Torrecilla-Parra Marta , Barrios Vicente , Frago Laura , Chowen Julie A. , Argente Jesús

The insulin-like growth factor (IGF) system is fundamental for physiological processes such as growth and metabolism. In addition, in the brain it regulates glucose metabolism and neuroprotection. The IGF axis can be altered by nutritional status, but little is known regarding the effects of specific dietary components on this system.Our aim was to examine how high-fat diet (HFD) and low-fat/high sucrose diet (LFHSD) intake affect the central and circula...

hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...