ESPE Abstracts

Background: Normal neonates exhibit a transitional state of physiological hyperinsulinism (HI) during the first 2-3 days of life as an adaption from the fetal state. Prolonged, pathological HI can cause irreversible cerebral damage, if not avoided by early diagnosis and prompt treatment. We hypothesized that umbilical cord blood glucose, included in routine cord gas analysis, can be used as an ideal screening tool for pathological HI. We first aimed to establi...

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

Introduction: FlexPro® PenMate® (PenMate®) (Novo Nordisk A/S, Denmark) aims to reduce needle anxiety by hiding the needle during injection. This usability test validated the safe and effective use of PenMate® and the instructions for use (IFU) in patients with growth hormone (GH) deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA).Me...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

Introduction: This test assessed the safety and usability of FlexPro® 30 mg/3 ml (Novo Nordisk A/S, Denmark), a pen-injector for injection of human GH in patients with GH deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA), and validated the instructions for use (IFU) and instructional video.Methods: Children with GHD/SGA or TS/NS, adult patients, caregivers of patients with GHD/S...

Aims: To investigate the prevalence of diabetic polyneuropathy (DPN), cardiac autonomic neuropathy (CAN) and sudomotor dysfunction in children and adolescents with type 1 diabetes using bedside modalities. Secondly, to evaluate the co-existence of these types of diabetes neuropathies.Methods: Cross-sectional study including 221 children and adolescents with type 1 diabetes. DPN was assessed by vibration sensation thresho...

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...