ESPE Abstracts

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (g...

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...

Background: The use of insulin pumps is rapidly spreading within the paediatric T1D community. A few small studies have promoted pump usage, while large registries have shown almost no advantage of this treatment.Objectives: Compare the results of treatment with insulin pump (‘Pump’) with insulin injections (‘Inj’) in a large cohort of children with T1D in field conditions.Patients: We studied 3137 children of t...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case–control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a &#...

Background: The rapidly increasing T1D incidence in European children suggests the recent emergence or extension of predisposing E factors, or the decrease of protective E factors acting during pregnancy, infancy or early childhood. E research has preferentially focused on specific candidate factors, such as hygiene hypothesis, enteroviruses, alimentation, in cohort or case-control studies. The risk of bias is a major concern in E studies.Objectives: To ...

Introduction: Diagnosing a seizure can be tricky. The first thing a doctor should do is to rule out other conditions, such as non-epileptic seizures. One of these conditions may be metabolic disturbance as hypoglycemia. Growth hormone deficiency is commonly presented with short stature during childhood .hypoglycemia is a rare presentation of the disease.Case report: a four year and seven months male child, diagnosed as a...

Background: Diabetic patients frequently develop a constellation of electrolyte disorders. These patients are often potassium-, magnesium- and phosphate-depleted, especially in the context of diabetic ketoacidosis.Patients with type-1 diabetes are predisposed to develop a spectrum of liver diseases, which includes fatty liver, steatohepatitis and cirrhosis. The association of hepatitis A infection with type-1 diabetes is extremely rare.<...

Background: Chronic, autoimmune thyroid diseases are sometimes combined with autoimmune hematologic diseases, such as pernicious anemia, autoimmune hemolytic anemia (AIHA) and idiopathic thrombocytopenic purpura (ITP). Hashimoto thyroiditis is one of the most common autoimmune diseases.Case report: seventeen years old female adolescent complaining of delayed puberty and short stature. She is a known case of autoimmune hemolytic anemia diagnosed at age of...

Background: In some recent materials of blood samples from boys with cryptorchidism gonadotropins are higher and serum inhibin-B lower than normal. Inhibin-B is produced by the Sertoli-cells and to some extent serum values of inhibin-B reflect the state of germinative epithelium in cryptorchid testes. In boys with bilateral vanished testes the serum inhibin-B level is close to zero.Objectives and hypotheses: Aim of study was to evaluate the serum inhibin...