IMPE Abstracts

Background: Physical condition is related with degree of physical activity performed. Daily physical activity is part of non-pharmacological treatment for adolescents with type 1 diabetes (T1D) due its effects in glycaemia stability and reducing cardiovascular risk. However, several studies have observed poor physical condition in adolescent with chronic diseases.Objective: To evaluate physical condition in adolescents w...

The accelerated growth phase observed during puberty depends on the combined effects of the somatotropic and gonadotropic axes. Our previous studies have demonstrated that relatively low concentrations of estradiol (20 pg/mL) and high concentrations of testosterone (10 ng/mL), potentiate the JAK2/STAT5 signaling pathway induced by GH in the human hepatic cell line (HEPG2). It is not known whether these effects are direct, or are mediated through the suppressors of cytokine sig...

Introduction: The optimal control of type 1 diabetes mellitus (DM1) has been a challenge over time, especially in the pediatric population. A high proportion of patients do not achieve glycemic targets, which has led to the search for new strategies to optimize metabolic control. Recently, advanced hybrid closed-loop system (AHCL) have been designed to combine automated basal insulin delivery with automated five-minute correction boluses integrated to continuo...

Introduction: Thyroid cancer is the most common endocrine neoplasm in childhood: incidence 1.6/million children <15 years, with a progressive increase over time. They present as mostly benign thyroid nodules, but up to 25% may be malignant. Well-differentiated papillary carcinoma is the most frequent in the general population, but in prepubescents it presents in a more advanced and aggressive way than in the adult population. Poorly differentiated thyroid c...

Introduction: Gender preference is increasingly more common in our society and in medical general practices. This makes necessary for current and future medical professionals to have up to date, non-biased information so that they can assist transitioning patients with their physical and mental wellbeing.Objective: To explore knowledge and opinions of future medical professionals about transsexuality, and the evolution a...

Introduction: Sphingosine-1-phosphate lyase 1 (SGPL1) deficiency is a recently discovered syndrome that associates primary adrenal insufficiency, hypothyroidism, nephrotic syndrome and neurological disease. We report two siblings with this condition and different clinical course.Case 1: A 5-year-old boy with a history of three episodes of gastroenteritis with dehydration was evaluated (Table 1). Glucocorticoid adrenal de...

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...

Background: Pituitary gigantism is a rare endocrine disease characterized by unusually tall stature due to growth hormone (GH) excess as a result of a GH-secreting pituitary tumor or hyperplasia, which occurs before epiphyseal closure. Treatment includes surgery, medical treatment and radiotherapy (RT),Objective: describe the clinical course of 9 patients with pituitary gigantism.Materials ...

The genetic defects underlying hypogonadotrophic hypogonadism (HH) are known in approximately 50% of cases. In normosmic patients, abnormal GnRH production or action may be due to defects in regulatory factors or in the genes encoding GnRH or GnRHR. Although many gene variants have been described in GNRHR (4q13.2), the potential impact of structural alterations of the resulting mutant proteins have not been studied. In this study, we analysed the 3D-structure of the variant Gn...

Introduction: FHH is an autosomal dominant disorder caused by an inactivating mutation of the CaSR gene in two-thirds of cases. It is considered a "benign"and generally asymptomatic condition. On the other hand, GH and IGF1 stimulate renal synthesis of 1,25-hydroxyvitamin D and increase bone turnover.Case Report: We present a 9.8-year-old (y) male, referred for growth assessment. He was born at 36 weeks with no...