ESPE Abstracts

Background: Graves’ disease (GD) is the most common cause of hyperthyroidism in fertile woman and can cause fetal and neonatal hyper or hypothyroidism. It is associated with transplacental transfer of maternal thyrotropin receptor antibodies (TRAb).Objective and hypotheses: The main objective of this study was to characterize the neonates born to women with GD followed in a pediatric endocrinology reference unit.Method: A retr...

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

Introduction: The COVID-19 pandemic adversely impacted general access to healthcare. An association between SARS-CoV-2 infection and new-onset type 1 Diabetes (T1D), a more severe disease at diagnosis and a worsening diabetes control have been described.Aim: To evaluate COVID-19 pandemic’s impact in incidence and presentation of T1D on paediatric patients.Material and Methods:</strong...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...