ESPE Abstracts

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

Introduction: Little is known about the effects of puberty suppression (PS) and hormone therapy (HT) on growth and adult height in transgender adolescents. These are topics of interest since height differs between sexes and some transgirls wish to limit their growth. In this longitudinal cohort study, we investigated the influence of PS and HT on growth and the efficacy of growth reduction therapy in transgender girls.Methods:</s...

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Background: Endocrine deficiencies, including impairment of the hypothalamic-pituitary-gonadal axis (HPGA), are found in the majority of survivors of medulloblastoma, due to high-dose craniospinal irradiation and gonadotoxic chemotherapy. Data regarding HPGA function in survivors of medulloblastoma is limited to small groups of patients and focusses mainly on female survivors. Furthermore, few studies investigated specific risk factors such as treatment protoc...

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...

Context: Non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood, whether treated or untreated, could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. Both sustained hyperandrogenism and chronic glucocorticoid therapy may affect body composition. However, little is known about the body composition of subjects with NCCAH and its contribution to the development of adverse metabolic outcomes. <...

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...