hrp0098p2-373 | Late Breaking | ESPE2024

Screen time of children under five years old: repercussions on the habits and parents positioning.

Machado Pinto Renata , Victória Miranda Borges Bárbara , Soares Domingos de Sousa Isabella , da Silva Morais Lorena

Introduction: Excessive exposure of children to electronic devices is related to an increased risk for diabetes and obesity and greater chance of developing visual and cognitive disorders.Objective: To understand the time spent with screens (cell phone, tablet, computer, and television) by children under 5 years old in Goiânia-Goiás-Brazil and analyze the consequent impacts of this habit and parental positio...

hrp0086p2-p436 | Gonads & DSD P2 | ESPE2016

Mixed Gonadal Disgenesia: Patients of Instituto da Criança, HC-FMUSP

Ferreira Marianna , Pinheiro Claudia , Queiroz Edjane , Brigatti Nathalia , Ito Simone , Steinmetz Leandra , Cominato Louise , Setian Nuvarte , Dichtchekenian Vae , Filho Hamilton Menezes , Manna Thais Della , Damiani Durval

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...

hrp0089p1-p038 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry

Hogler Wolfgang , Langman Craig , Gomes Da Silva Hugo , Fang Shona , Linglart Agnes , Ozono Keiichi , Petryk Anna , Rockman-Greenberg Cheryl , Seefried Lothar , Kishnani Priya

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

hrp0086p1-p348 | Gonads & DSD P1 | ESPE2016

Exonic Splicing Mutations by Silent Nucleotide Variation in the Androgen Receptor Gene Causes Androgen Insensitivity Syndrome

Loch Batista Rafael , de Santi Rodrigues Andreza , Evilen da Silva Tathiana , Siqueira Cunha Flavia , Lisboa Gomes Nathalia , Rodrigues Daniela , Domenice Sorahia , Frade Costa Elaine , Bilharinho de Mendonca Berenice

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

hrp0094p1-155 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Pediatric Inflammatory Multisystemic Syndrome in Brazil: sociodemographic characteristics and risk factors to death

da Silva Oliveira Vinicius , Batista Soares Marcela , Jose de Morais Walison , Portugues Almeida Julia , Araujo Dias Lara , Abi Faical Barros Laura , Carvalho de Aquino Erika , Machado Pinto Renata ,

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0098p1-170 | Growth and Syndromes 2 | ESPE2024

Growth hormone therapy is not efficient in improving the adult height of children with Hypochondroplasia

Rosa Pellicciari Caroline , Silva Alves da Rocha Renata , Pieri Ribeiro Maine , Liberatoscioli Menezes de Andrade Nathalia , A. L. Jorge Alexander , C. Malaquias Alexsandra

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

hrp0089p1-p137 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Neonatal Screening Tests in Premature Newborns in Southern Brasil

Furtado Ivy Hulbert Falcao , Kraemer Gabriela Carvalho , de Lima Marcella Rabassi , Domingos Mousseline Torquato , Pereira Rosana Marques , Cat Monica Nunes Lima , De Lacerda Luiz , da Silva Regina Paula Guimaraes Vieira Cavalcante , Sarquis Ana Lucia Figueiredo , Nesi-Franca Suzana

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

hrp0086p1-p337 | Gonads &amp; DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0097p2-285 | Late Breaking | ESPE2023

Combined treatment with leuprolide acetate and burosumab in X-linked hypophosphatemic rickets and precocious puberty: a therapeutic response

Tempone Cardoso Penna Gustavo , Michelle de Araújo Evangelista Nara , Costa Figueiredo Carolina , de Fátima Tonetto Fernandes Vânia , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , de Paula Colares Neto Guido

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...