ESPE Abstracts

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...

Background: Receptor for advanced glycation end-products (RAGE) is a multiligand receptor up-regulated at sites of inflammation, especially in tissues with accelerated advanced glycation end-products formation. It is additionally stimulated by RAGE ligands S100A12 and HMGB1 released from recruited immune cells thus perpetuating the inflammatory process with a potential role in the development of type 1 diabetes as well as in development in diabetes complicatio...

Introduction: Automated insulin delivery has demonstrated improved glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). The present analysis investigates real-world glycemic outcomes in children and adolescent on the MiniMed™ 780G advanced hybrid closed loop (AHCL) system after switching from MiniMed™ 640G predictive low glucose suspend system (PLGS) or MiniMed 670G hybrid closed loop (HCL) system and calibration-free ...

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a...

Introduction: Disorders of sexual development (DSD) include etiologically heterogeneous group of patients that have disorders of genital development. Consensus guidelines that are currently used, divide all DSD in three main groups - sex chromosomal abnormalities, XX or XY DSD, all divided in subgroups in dependence of genetics and hormonal tests. The phenotypic spectrum of external genitalia, gonads and development of Wolfian and Mulerian duct derivatives var...

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

Introduction: Hypercalcaemia is an uncommon electrolyte disorder, frequently discovered incidentally based on routine blood chemistry results.Case report: A 14-year-old adolescent was admitted to the Endocrinology Department due to obesity, gait and depression. His weight had been gradually increasing over the previous 2 years, and on admission his BMI was 31.5 kg/m2. The pain in his legs started a year ago, but worsened progressively and in t...

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...