ESPE Abstracts

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: Paediatric diabetes has been the focus of attention during the COVID-19 pandemic. There are reports of increased incidence of new-onset type 1 paediatric diabetes and concerns about delayed presentations to the Emergency Department (ED) due to parental fears of SARS-CoV-2, resulting in an increase in the incidence and severity of DKA in children with new-onset diabetes.Objectives: To characterise the features...

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

Congenital Hyperinsulinism (CHI) is primarily associated with defects in the regulated release of insulin from ß-cells but little information is available about the role of other islet cell types. Pancreatic polypeptide (PP) cells represent a minor component of the islet endocrine cell population. PP causes satiety, decreases gastrointestinal tract motility and suppresses glucagon release. Since CHI is associated with feeding problems and loss of glucagon-mediated counter...

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...