hrp0082p2-d3-491 | Endocrine Oncology | ESPE2014

Autoimunne Thyroiditis in Type 1 Diabetes Mellitus Pediatric Population

Gomes Clara , Andrade Joana , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

hrp0082p3-d3-735 | Diabetes (2) | ESPE2014

Metabolic Control in a Pediatric Population with Type 1 Diabetes Mellitus

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...

hrp0082p3-d3-753 | Diabetes (4) | ESPE2014

Type 1 Diabetes Mellitus in Pediatric Population: Chronic Complications and Associated Diseases

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is the second most frequent chronic disease in childhood and adolescence. Chronic hyperglycemia is responsible for numerous long term complications, not only microvascular (retinopathy, nephropathy and neuropathy), but also macrovascular (ischemic cardiopathy, cerebrovascular disease and peripheral vascular disease). On the other hand, the T1DM immune modification is responsible for an increased incidence of other autoimmune diseases...

hrp0086fc2.4 | Bone & Mineral Metabolism | ESPE2016

In vitro Evidence that Growth Plate Chondrocytes Differentiate into Perichondrial Cells

Spath Stephan-Stanislaw , Andrade Anenisia , Chau Michael , Nilsson Ola

Background: During early bone formation, mesenchymal stem-cells condense and differentiate into collagen type 2-expressing chondrocytes which form the cartilaginous bone anlagen. This anlage becomes enclosed by the perichondrium. The perichondrium consists of two layers, the inner cambium layer containing chondrocyte- and osteo-precursor cells and the outer fibrous layer important for mechanical and structural support. While the regulation of the growth plate is increasingly w...

hrp0089p3-p206 | GH & IGFs P3 | ESPE2018

Body Mass Index (BMI) in Patients with Growth Hormone Deficiency (GHD) at Diagnosis, One Year and Two Years After Treatment with Growth Hormone (GH)

Schmitt-Lobe Maria Claudia , Costa Debora Regina Andrade Dalla , Ueno Rafael Koji Yoshimatsu

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

hrp0094p2-381 | Pituitary, neuroendocrinology and puberty | ESPE2021

Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis

Rezende Raissa , Jorge Alexander , Noronha Renata , Keselman Ana , Andrade Nathalia , Dantas Naiara , Bertola Debora , Malaquias Alexsandra ,

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

hrp0092p2-130 | Fat, Metabolism and Obesity | ESPE2019

Severe Obesity – Much More Than an Unhealthy Lifestyle

Matias Joana , Amorim Marta , Limbert Catarina

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

hrp0082p2-d1-565 | Sex Development | ESPE2014

Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development

Fabbri Helena , de Andrade Juliana Gabriel Ribeiro , Maciel-Guerra Andrea Trevas , Guerra-Junior Gil , de Mello Maricilda Palandi

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

hrp0082p3-d2-995 | Thyroid (1) | ESPE2014

Optimizing Treatment in Congenital Hypothyroidism

Serra-Caetano Joana , Migueis Joana , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: Congenital hypothyroidism (CH) is an important and preventable cause of growth retardation and neurological deficit. Early treatment is crucial to minimize long term effects and today regimens tend to be more aggressive targeting hormonal control.Objective: To correlate CH severity at diagnosis with levothyroxine (LT) dosage and time needed to control TSH levels.Methods: Retrospective study including children with CH at...

hrp0086p1-p355 | Gonads &amp; DSD P1 | ESPE2016

Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations

Fabbri Helena Campos , Werner Ralf , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , Andrade Juliana Gabriel Ribeiro de , Hiort Olaf , Mello Maricilda Palandi de

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...