ESPE Abstracts

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated thyroid stimulating hormone (TSH) and normal free-thyroxine (FT4) level. Persistent HT in the neonatal period is often a diagnostic dilemma for clinicians to either treat to prevent subclinical hypothyroidism or to wait and monitor thyroid function tests (TFTs).Methods: As part of an audit, 1,449 term infants who had TFTs undertaken as part of a prolo...

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

Background: It is sometimes difficult to diagnose and manage fluid and electrolyte imbalance after surgery for hypothalamic/pituitary tumors. We present a pediatric case of severe SIADH successfully treated with tolvaptan after suprasellar tumor resection.Case: The case was 8-year-old girl with growth failure. She was found to have suprasellar tumor on CT scan when she accidentally fell down and hit her head. MRI suggest...

Background: Attention deficit hyperactivity disorder (ADHD) is a common pediatric disorder with ongoing debate in the literature about its association with growth impairment. Most studies have focused on stimulants treatment effect while others suggested direct effect of ADHD. The present study compared height growth of ADHD children each measured before and after stimulant treatment.Methods: We conducted historical pros...

Introduction: Hypoferraemia is the most common nutritional deficiency worldwide and a leading cause of potential developmental disorders in children. Obesity seems to be associated with this condition, but it is still unclear if it is caused either by depleted iron stores, diminished availability, or both.Aim: To analyse the relationships between childhood obesity, iron metabolism and inflammation....

Background: Cantu´ syndrome is rare disease characterized by characterized by congenital hypertrichosis, neonatal macrosomia, cardiomegaly and several other abnormalities. Gain-of-function mutations in either KCNJ8 or ABCC9 have been identified as the causative gene for Cantu´ syndrome. Here we report the first genetically diagnosed Cantu´ syndrome case in China and describe the full clinical features of the case.<p class="...

Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.The...

Introduction: Thyroid disorders (such as endemic and nodular goiter, thyroiditis, congenital and acquired hypothyroidism) are one of the most common endocrine problems in children and adolescents in Ternopil Region (Ukraine) during the last decades. The main causes of goiter in children may include autoimmune diseases and iodine deficiency.Purpose: The aim of current study is to assess goiter according to etiology in the...