ESPE Abstracts

Introduction: The main type of diabetes seen in pediatric clinical practice is type 1 diabetes. Monogenic diabetes and syndromic diabetes are rare, but can be more common in areas where consanguinity is high.A 12-year-old girl born to consanguineous parents who are first cousins, was referred after being diagnosed with diabetes and severe diabetic ketoacidosis. In addition, she had hypertrichosis, coarse facial features, acanthosis nigri...

Introduction: 17q12 deletion syndrome is associated with an enlarging phenotype, the most frequent clinical findings being renal and genitourinary malformations, diabetes mellitus (β-cell developmental defect) and exocrine pancreas deficiency, variable cognitive impairment with dysmorphic features.Diabetes, known as MODY 5 (maturity-onset diabetes of the young), is an autosomal dominant monogenic type and the most commonly identi...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

Aims: Non-alcoholic fatty liver disease (NAFLD) is the asymptomatic involvement of liver due to fatty infiltration of hepatocytes seen commonly in obese children. Elevated serum aminotransferase level serves as a surrogate marker of NAFLD. The recommended ALT cut-offs for screening for NAFLD in obese boys and girls are 22 and 25U/L respectively. We determined the prevalence of NAFLD amongst obese children in our population based on Liver Ultrasonography(USG), ...

We evaluated the effect of GFD on the growth of children with the classical form of CD on long-term GFD (> 2 years).Methods: We studied growth parameters (weight gain/day, BMI and BMISDS, HtSDS) and lab data for 30 prepubertal children aged 8.5 years +/−3 years with CD, who were on GFD since the age of 3.4 years +/−2.6 years (> 2 years on GFD) for duration of 1 year. The anthropometric data of 30 randomly sele...

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Background: The prevalence of childhood obesity is dramatically increasing worldwide. Overweight and obesity are well known risk factors for metabolic disorders such as Insulin Resistance, Type II Diabetes, Arterial Hypertension and Non Alcoholic Fatty Liver Disease (NAFLD).Aims: This study was conducted to assess the prevalence of Hypertriglyceridemic Waist phenotype (HTGW) among overweight and obese Greek children. Fur...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children with autoimmune thyroid disease. Clinically, goiter, tachycardia, restlessness, craniosinostosis, hyperactivity, growth retardation, diarrhea may occur.Graves' disease is rare under 4 years of age. Treatment options include antithyroid therapy, surgery, and radioiodine therapy. The most commonly used antithyroid therapy is methimazole and has serious side effects such...

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...