hrp0082p2-d2-600 | Thyroid (1) | ESPE2014

Low Serum Free T4 Concentration in a Girl with McCune-Albright Syndrome

Peet Aleksandr , Roosimaa Mart , Pajuvali Anett , Tillmann Vallo

Background: McCune–Albright syndrome (MAS) is a rare disease with a prevalence of <1 to 100 000. It is caused by early post-zygotic mutations in the GNAS1 gene. Classically it presents with precocious puberty, fibrous dysplasia and café-au-lait spots. Other endocrinopathies may be hyperthyroidism, GH excess, Cushing syndrome, and renal phosphate wasting.Case report: A 17-year-old girl diagnosed with MAS at the age of 11 on basis of all thre...

hrp0092p1-274 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Quality of Life in Chilean Transgender Children, Adolescents, and Their Parents

Mendoza Carolina , Martínez-Aguayo Alejandro , Flores Mónica , Morales Cristobal

Background: Quality of life (QOL) includes physical, psychological and social aspects. Transgender (TG) children undergo problems in school and with family, friends, and social relationships. These adverse effects on physical and psychosocial health can impair their quality of life.Objective and Methods: This study aims to assess health-related quality of life (HRQOL), using the KIDSCREEN-52 questionnaire (Spanish versio...

hrp0094p2-408 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Plexiform neurofibroma of the penis as an infrequent manifestation debut in a pediatric patient

Peña Fernanda , Martínez Alejandro , García Cristian , Dossi Teresa , Kolbach Marianne , Mellado Cecilia , Baquedano Paulina

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

hrp0092rfc1.3 | Diabetes and Insulin Session 1 | ESPE2019

The Association Between IGF-1 levels and Nonalcoholic Fatty Liver Disease (NAFLD) in Adolescents with Type 2 Diabetes

Orozco Morales Jose Antonio , Torres Tamayo Margarita , Suárez Pilar Dies , López Martínez Briceida , Liliana América , Medina Bravo Patricia Guadalupe

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The mechanisms responsible for the development of nonalcoholic fatty liver disease (NAFLD) and progression to nonalcoholic steatohepatitis (NASH) in these patients are incompletely understood. Low serum insulin-like growth factor-1 (IGF-1) levels are associated with increased histologic severity of NAFLD. Growing evidence suggests that growth hormone (GH) and IGF-1 may have r...

hrp0092p1-338 | Fat, Metabolism and Obesity (2) | ESPE2019

Continuous Score of Metabolic Syndrome (sSMp) in Chilean Pediatric Population is Associated with Insulin Resistance Parameters and Subclinical Endothelial Inflammation

Loureiro Carolina , Cavada Gabriel , Bancalari Rodrigo , Vecchiola Andrea , Tapia Alejandra , Baudrand René , Campino Carmen , Carvajal Cristian , Fardella Carlos , Martíinez Alejandro , García Hernán

Introduction: The dichotomous nature of the definition of Metabolic Syndrome (MS) in both children and adults can under-diagnose subjects at risk and prevents adequate follow-up of therapeutic interventions. Recently, a continuous score of MS (sSMp) was validated in the pediatric population based on the IDF criteria for a population> 16 years.Objectives: To apply sSMp in a Chilean pediatric population cohort and corr...

hrp0092p2-129 | Fat, Metabolism and Obesity | ESPE2019

Characterization of Adherence to Follow-up and Therapeutical Outcomes in a Large Cohort of 1300 Patients with Obesity Visited in a Specialized Tertiaty Care Center

Martínez-Villanueva Julián , González-Leal Rocío , Argente Jesús , Ángel Martos-Moreno Gabriel

Background: Adherence to follow-up visits in children and adolescents with obesity is a key factor for successful therapeutic outcomes in these patients.Objective: To analyze the adherence to scheduled visits and drop-out rate and the anthropometric, metabolic and behavioral outcomes as a result of an intervention program in a large cohort of children and adolescents with obesity.Patients a...

hrp0092fc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

DNA Methylation Signatures in Placenta and Umbilical Cord: Association with Maternal Obesity

Mas-Pares Berta , Xargay-Torrent Silvia , Gomez-Vilarrubla Ariadna , Lizarraga-Mollinedo Esther , Martínez-Calcerrada Jose-María , Bonmatí-Santané Alexandra , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

hrp0092p1-376 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Noonan Syndrome (NS) Spectrum Panels should Include Mutations in LZTR1 Gene

Güemes Maria , Martín-Rivada Álvaro , Ortiz-Cabrera Nelmar Valentina , Martos-Moreno Gabriel Ángel , Pozo-Román Jesús , Argente Jesús

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...