hrp0097p2-106 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Evaluation of trends and care of transgender young assisted in a reference unit.

Dominguez-Riscart Jesus , Crespo-Delgado Angela , Mateo-Gavira Isabel , Baez-Castillo Celia , Larran-Escando Laura

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

hrp0089p3-p103 | Diabetes & Insulin P3 | ESPE2018

Epidemiological Study and Analysis of Type 1 Diabetes Comparing Patients with and Without Ketoacidosis in the Last 5 Years

Viseras Irene Pilar Fernandez , Mata Maria Angeles Santos , Delgado Silvia Ponce , Perez Celia Morales , Lopez Francisco Jose Macias

Type 1 diabetes (T1DM) in childhood is a highly prevalent disease, with incidence oscillating around 17.6/100000. However, incidence is higher in some communities (25.5/100,000), as it is in the case that concerns us. Diabetic ketoacidosis (DKA) is a complication usually recorded in 25–40% of cases but has been as high as 55% in studies of children under 5 years old. (T1DM) is an associated autoimmune disease to other precursor autoimmune pathologies.<p class="abstext...

hrp0095p1-35 | Diabetes and Insulin | ESPE2022

Does parental food choice preferences impact on metabolic control of children with type 1 diabetes?

López-Morago Casamayor Claudia , Domínguez Riscart Jesús , García Zarzuela Ana , Morales Pérez Celia , Leis Rosaura , M. Lechuga-Sancho Alfonso

Introduction: Diet plays a key role in the management of type 1 diabetes (T1D), thus nutritional education is a cornerstone in T1D therapy. The integration of nutrition knowledge into nutritional behavior may help parents inculcate a healthy lifestyle to their children. However, parents' diet and its potential impact on metabolic control of the disease of their children have been scarcely analyzed. This study was aimed to examine whether parents' foo...

hrp0095p2-181 | Growth and Syndromes | ESPE2022

IHH gene variant causing short stature and minor skeletal disorders

García-Zarzuela Ana , Domínguez-Riscart Jesús , Rodriguez-Barrios Carmen , Morales-Pérez Celia , Karen-Heath Emma , Mª Lechuga-Sancho Alfonso

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

hrp0092fc14.1 | GH and IGF1 | ESPE2019

Inhibition of IGF1R by IGF1R/IR Inhibitor OSI906 as a Targeted Therapy for Glioblastoma: in vitro & in vivo Studies

Fernandez Maria Celia , Martin Ayelen , Clément Florencia , Venara Marcela , Fernanda Castro Julia , Lombardi Mercedes Garcia , Bergadá Ignacio , Pennisi Patricia

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

hrp0092p1-359 | GH and IGFs (2) | ESPE2019

Insulin-Like Growth Factor 2 in Pediatric Gliomas: Expression, Intracellular Localization and Association with Clinical Outcome

Clément Florencia , Martin Ayelen , Venara Marcela , Fernández María Celia , Lombardi Mercedes García , Bergadá Ignacio , Pennisi Patricia

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

hrp0086p1-p891 | Thyroid P1 | ESPE2016

Newborn Screening Program for Congenital Hypothyroidism: Eighteen Years of Experience in Buenos Aires Province, Argentina

Gonzalez Veronica , Esposito Mariela , Vitale Laura , Morin Analia , Fasano Victoria , Pattin Jorgelina , Celia Ferrari , Mariela Dietz , Gustavo Borrajo , Zulma Santucci , Viviana Balbi

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

hrp0094p2-261 | Growth hormone and IGFs | ESPE2021

Increased height and IGF1 serum levels in children with non-neurofibromatosis type 1 gliomas

Clement Florencia , Castro Sebastian , Dech Gaston , Martin Ayelen , Celia Fernandez Maria , Gabriela Ropelato Maria , Bergada Ignacio , Gabriela Ballerini Maria , Pennisi Patricia ,

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

hrp0097p2-105 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Self-perception of voice in trans girls adolescents depends on pubertal stage blockage.

Domínguez-Riscart Jesus , Larran-Escandon Laura , Baez-Castillo Celia , Triviño-Garcia Adrian , Mateo-Gavira Isabel , De Mier-Morales Miguel

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...