ESPE Abstracts

Objectives: The aim of this study is to describe the clinical characteristics of Austrian children and adolescents with gender dysphoria seeking gender affirming medical care, as well as their treatment trajectories.Methods:In this retrospective study at a large university hospital, a chart review of all patients presenting with gender dysphoria at the pediatric outpatient clinic for differences in sex development betwee...

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...

Background: Childhood IGCT are rare, malignant tumours of the pituitary stalk and pineal region, highly curable (>90%) by multimodal therapies. Neuroendocrine outcomes are thus important. Deficits increase over time but, without longitudinal studies, it remains unclear whether they are primarily disease or treatment related.Objective and hypotheses: To determine, by longitudinal retrospective analysis in survivors, tumour- and treatment-related facto...

Recent evidence suggests increase of Precocious Puberty (PP) after the Covid-19 pandemic; however, there are no data from Greece in the literature. The aim of this study was to investigate whether there was an increase in the incidence of PP, during the pandemic period, in Northwest Greece (Ioannina) and Crete (Heraklion). A retrospective analysis of prospectively collected data was performed, in pediatric patients assessed in Pediatric Endocrinology outpatient clinics in Ioan...

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

Objectives: The aim of this study was to report on the frequency and describe the clinical characteristics of the ones diagnosed as thyroid cancer among all suspicious nodules diagnosed in the pediatric endocrinology department and to compare the findings with recent published literature.Methods: Retrospective study during the last 5 years. Patients aged <18 years, with suspected thyroid nodule malignancy, according t...

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Childhood is an important period for bone acquisition. Some studies indicate a negative effect on bone mass during KD treatment, probably as a consequence...

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Some studies indicate that prolonged KD treatment can negatively affect linear growth in children. Long-term data is missing regarding the effects of MKD ...

Objectives: Current safety data do not indicate an association of GH therapy with increased risk for development/progression of tumours, or worsening of congenital cardiac conditions in individuals with Noonan syndrome (NS); however, data are limited. This report describes real-world safety data on GH therapy in paediatric patients with NS.Methods: Two complementary non-interventional, multicentre studies, NordiNet IOS (NCT00960128) and ANSWER Program (N...