ESPE Abstracts

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

Background: Dominantly acting loss-of-function mutations in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the β-cell potassium channel (KATP), are usually responsible for mild diazoxide-responsive congenital hyperinsulinism (CHI). In rare cases dominant ABCC8 mutations can cause diffuse diazoxide-unresponsive CHI. Recent reports suggest that medically responsive CHI due to a dominant ABCC8 mutation may confer an increase...

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...

Background and aims: Achieving good glycemic control is a major challenge for adolescents with type 1 diabetes (TID). The introduction of the MiniMed 780G system, an advanced hybrid closed-loop (AHCL), that enables an automatic correction of insulin, gave hope for improved glycemic outcomes in adolescents. We assessed specific characteristics associated with glycemic measures in youth with T1D switching to Minimed 780G.Methods:</...

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

Background: Very early onset diabetes mellitus (neonatal diabetes mellitus (NDM)) seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with NDM, some of which have been elucidated at the molecular level. Among these, the recently elucidated mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic KATP channel involved in regulation of insulin secretion, account for one...