ESPE Abstracts

Introduction: Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants and children. It is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. KATP-HI can be classified into two distinct histological forms: a diffuse form, in which all of the pancreatic β-cells a...

Introduction: Congenital hyperinsulinism (CHI) is a disorder of pancreatic beta-cells characterized by inappropriate secretion of insulin leading to hyperinsulinemic hypoglycemia. Insulin secretion is a complex, genetically regulated process. Mutations in several genes known to regulate insulin secretion result in CHI. Recently, non-coding mutations in HK1, which cause the aberrant expression of hexokinase 1 (HK1) in beta cells, have been reported as a novel c...

Background: Congenital adrenal hyperplasia (CAH) is a disorder, leading to hyperandrogenaemia in the period of organogenesis of external genitalia, resulting in the disorders of sex development(DSD) in 46XX patients where external and internal genitalia do not correspond to each other. The aim of current work is to show the barriers and challenges in a 46XX patient in choosing the sex for up-bringing the child.Case presentation:<...

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of...

Background: Growth hormone deficiency (GHD) is a disorder affecting children's linear growth and leading to short stature without initiation of treatment with growth hormone (GH). Administration of GH has been shown to be safe and effective to increase children's final height in GHD. It is important to start the treatment as early as the GHD is diagnosed. The objective of the current study is to evaluate the growth velocity and height standard deviat...