ESPE Abstracts

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Keywords: Anti-GAD antibodies, Anti-thyroid antibodies, celiac disease, HbA1c, type-1 diabetes mellitus. We analyze the association of anti-GAD positive type-1 diabetes mellitus (T1DM) with anti-thyroid antibodies and celiac disease. We analyzed children of both gender and aged between 1 to 18 years having known T1DM. Blood sample of each child was taken in sterilized container and sent to institutional laboratory for biochemical investigations. In a total of ...

Congenital hyperinsulinism is a rare genetic cause of symptomatic hypoglycemia carrying risk of significant morbidity and mortality if left undiagnosed and untreated. It is characterized by unregulated insulin secretion from pancreatic beta cells leading to hypoglycemia. It can be broadly classified into diffuse and focal types. Till date, at least nine different types of genes are identified among which ABCC8 and KCNJ11 are the most common genetic mutations. Genetic mutation ...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

Introduction: Thiamine responsive megaloblastic anemia (TRMA) is a rare autosomal recessive condition caused by mutations in SLC19A2 gene and is classically characterized by the triad of diabetes mellitus, sensorineural hearing loss and megaloblastic anemia. It usually presents between infancy and adolescence but the cardinal findings are often not present initially. The anemia, and sometimes the diabetes improves with high doses of thiamine. Apart from the cl...

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

Background: Graves’s disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with anti-thyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy, and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce.Methods: A ...

Background: The most prevalent cause of thyrotoxicosis in children is Graves’ disease (GD), and remission occurs only in a modest proportion of patients. The treatment of GD involves the use of antithyroid medications (ATDs), radioactive iodine (RAI; (131I), or surgical thyroidectomy.Objective and hypotheses: This presentation will focus on the risks and benefits of the different treatment options for GD.Method: ATDs are the m...