ESPE Abstracts

Background: Diabetes education empowers children and adolescents with diabetes to acquire practical skills in problem-solving and goal-setting to improve self sufficiency. Our aim was to identify variables that have an the impact on diabetes control in terms of psychosocial wellbeing and glycosylated haemoglobin (HbA1c).Objectives and hypotheses: To compare the level of understanding & knowledge of diabetes between three groups of diabetic children. ...

Background: It is debated whether oral glucose tolerance test (OGTT) should be routine in child obesity units to identify high risk individuals for impaired fasting glucose (IFG) or impaired glucose tolerance (IGT).Aims: To investigate the prevalence of some signs of metabolic syndrome in child obesity.Methods: All consecutive newly referred obese children (BMI>30) at a Swedish university unit were evaluated with fasting glucos...

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic bone disorder characterised by the progressive degeneration of articular cartilage leading to pain, stiffness, joint enlargement and short stature. PPRD occurs due to a mutation in cellular communication network factor 6 (CCN6)/Wnt1-inducible signalling protein 3 (WISP3) gene, encoding a 354 amino acid signalling factor involved in BMP/WNT signalling and mitochondri...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...