ESPE Abstracts

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

Background: Hashimoto’s thyroiditis (HT) is the most common thyroid disorder in the pediatric population.Objective and Hypotheses: The aim of the present study was to observe clinical manifestations, clinical course and long term outcomes of HT in children and adolescents.Method: A total of 110 children and adolescents who presented to our center from 2008–2015, were evaluated retrospectively. Age and gender of the patien...

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

Background: The SRY protein is a transcription factor that contains a high mobility group (HMG) homeobox domain which possesses sequence-specific DNA binding activity and regulates other genes involved in male sex determination pathway. The majority of the identified mutations occurred within the HMG-box motif. There are few reports of pedigrees with familial transmission.Objective and Hypotheses: To describe a paternally transmitted novel SRY mutation w...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Background: Elevated blood pressure (BP) may occur from childhood, increasing the risk for hypertension in adulthood.Aim: To investigate the effect of anthropometric characteristics and lifestyle habits in children’s and adolescents’ BP.Methods: 949 children (<12 years old) from Lakonia, 178 teenagers (12–18 years old) from Athens and 372 from Kalamata, Greece, had participated during 2011–2014. A specially ...

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...