hrp0097p2-36 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Unusual presentation of pheochromocytoma (PCC) and paraganglioma (PGL) in two sisters with von Hippel Lindau disease (VHL)

Vieites Ana , J. Benítez Amanda , Eugenia Rodríguez María , Bignon Horacio , Sansó Gabriela

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

hrp0098p2-181 | Growth and Syndromes | ESPE2024

Mimicking the diagnosis - new challenge for pediatric endocrinology?

Vitáriušová Eva , Pribilincová Zuzana , Hrčková Gabriela , Košťálová Ľudmila

We present two cases in which we would like to point out the similarity of the clinical manifestation of the rare syndromes and the need for rigorous genetic analysis in detecting the origin of the disease. First patient is 2 years old boy examined due to severe muscle hypotonia, psychomotor delay and severe growth retardation (SDS of height -2,6). He was born as small for gestational age. Hypopituitarism was excluded. His phenotype strongly resembled Silver Russell syndrome, ...

hrp0098p2-197 | Growth and Syndromes | ESPE2024

Adult height of children born small for gestational age treated with growth hormone in southern Brazil

Eduardo Cruvinel Luís , Cardoso-Demartini Adriane , Kraemer Gabriela , Pereira Rosana , Nesi-Franca Suzana , Carvalho Julienne

Introduction: Children born small for gestational age (SGA) may present permanent short stature. Recombinant human Growth Hormone (rhGH) treatment is recommended for those without spontaneous catch-up growth, however it is not universally available in the Brazilian health care system. Response to treatment may be different across populations since there are many etiologies to SGA birth.Objective: to evaluate adult height...

hrp0086p2-p502 | Fat Metabolism and Obesity P2 | ESPE2016

Metabolic Syndrome in Prepubertal Obese Children: Inclusion of the Triglyceride/Hdl Ratio as an Alternative Diagnostic Criterion

Boquete Carla , Jesica Baran , Yuseff Fernanda Alvarez , Suarez Martha , Fideleff Gabriel , Azaretzky Miriam , Aranguren Marcela , Fusero Mariela , Ruibal Gabriela , Fideleff Hugo , Boquete Hugo

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

hrp0098p1-269 | Growth and Syndromes 4 | ESPE2024

Effect of treatment with Isotretinoin on early bone maturation: A Case Report

Scheidemantel Aline , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , de Lima Carlesso Gabriela , Ricardo Azevedo Silva João , da Silva Almeida Karina , Cardoso-Demartini Adriane

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...

hrp0095rfc6.4 | Sex Development and Gonads | ESPE2022

Sertoli cell dysfunction at diagnosis in children with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , E. Gutierrez Marcela , Soria Marcela , Morán Lorena , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

hrp0092p1-72 | GH and IGFs | ESPE2019

Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life

Ballerini María Gabriela , Braslavsky Débora , Freire Analía Verónica , Keselman Ana , Rodríguez María Eugenia , Altube Mercedes , Scaglia Paula Alejandra , Bergadá Ignacio , Ropelato María Gabriela

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

hrp0094p1-144 | Sex Endocrinology and Gonads B | ESPE2021

Ovarian AMH production is transiently affected in pubertal and prepubertal girls with acute lymphoblastic leukaemia and non-Hodgkin lymphoma receiving chemotherapy: a prospective, longitudinal study.

Lopez Dacal Jimena C. , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Ropelato M. Gabriela , Arcari Andrea , Ballerini M. Gabriela , Gryngarten Mirta , Soria Marcela , Moran Lorena , Ferraro Cristina , Freire Analia , Bergada Ignacio , Drelichman Guillermo , Aversa Luis , Rey Rodolfo A. , Grinspon Romina P. ,

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

hrp0098rfc9.4 | Sex Endocrinology and Gonads | ESPE2024

Testicular function in prepubertal boys with haematological malignancies during and post chemotherapy: a prospective, longitudinal study

C. Lopez Dacal Jimena , Prada Silvina , Brenzoni Luciana , Arozarena María , Gabriela Ropelato María , Gabriela Ballerini María , Eugenia Rodriguez María , Soria Marcela , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Introduction: Haematological malignancies represent the most frequent cancer in children. While there is an extensive literature on testicular function in adult survivors of childhood cancer, focused on sperm and androgen production, scarce information exists on the immediate impact in prepubertal boys.Aim: To characterise testicular function, focused on Sertoli cell biomarkers, from diagnosis up to 3 years after the end...

hrp0095p1-194 | Thyroid | ESPE2022

Response to initial treatment in a pediatric cohort of patients with papillary thyroid cancer (PTC): changes after 3 years of follow up

Papendieck Patricia , Eugenia Masnata Maria , Gabriela Ballerini Maria , Medin Martin , Elias Eugenia , Mateos Fernanda , Bergada Ignacio , Elena Chiesa Ana

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...