ESPE Abstracts

A new condition, unique to Irish Travellers, was first described clinically as autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD) ORPHA:75391 in 2008 and was attributed to recessive founder variant in MCM4/PRKDC gene in 2012. Irish Travellers are an indigenous endogamous population numbering ~40,000 in the Republic of Ireland. AR-NKGCD is characterised by short stature, glucocorticoid and natural killer cell deficiency and is a disorder of DNA repair. ...

Background: Type 1 diabetes is an autoimmune disease initiated by the invasion of pancreatic islets by immune cells that selectively kill the β cells. The loss of beta cells in Type I diabetes ultimately leads to insulin dependence and major complications that are difficult to manage by insulin injections. Regulation of immune response is a key strategy to control the autoimmunity in diabetic patients. Mesenchymal stem cells have been shown to have an app...

Background: Medical nutrition therapy is one of the cornerstones of the treatment of type 1 diabetes. Nutrition is affected by many factors including ethnicity, socioeconomic background, and culture.Objectives: To evaluate the nutritional status in a cohort of children with type 1 diabetes from different ethnic backgrounds and to seek differences among the groups. In addition determine the effect of nutrition on metaboli...

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...

Objective: The aim of this study was to investigate the effect of COVID-19 pandemic restrictions on the frequency of diabetic ketoacidosis (DKA) at the time of diagnosis in children with type 1 diabetes (T1D).Method: The medical records of children with T1D who were diagnosed between 16.03.2018 and 16.03.2022 in pediatric endocrinology clinics in Elazig province in Turkey were retrospectively reviewed for the presence of...

Introduction: Obesity and related metabolic diseases occur as a chronic imbalance between energy intake and energy expenditure. Due to its high metabolic activity, brown adipose tissue (BAT) has become a promising target for the development of new treatment concepts for metabolic disease. Having a high concentration of mitochondria, BAT is necessary to control the entire energy metabolism of the body. BAT consumes significant amounts of glucose and fatty acids...

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...

Background: Growth patterns in early childhood are important for predicting adult overweight or obesity. BMI is the most widely used measure. However BMI does not reveal much regarding the distribution of fat, for example the visceral fat that in adults is highly correlated with metabolic risk. Waist-to-Height Ratio (WtHR) is in adults a better measure for visceral fat and studies indicate that the same applies to children.Objective and hypotheses: To st...

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...