ESPE Abstracts

Introduction: Obesity is a recognised risk factor for raised intracranial pressure in the adult population but is still under-recognised in children and young people. The pathophysiology of raised intracranial pressure in relation to obesity remains unclear. The aim of our study is to investigate the association between idiopathic intracranial hypertension (IIH) and obesity in children and young people.Method: Patients d...

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

Background: GH deficiency type IA represents the most serious form of isolated deficit GH (IDGH). It’s transmitted as an autosomal recessive pattern and in most cases there is a homozygous deletion of the GH1 gene. Good initial response to treatment is characteristic, although often could appear antibodies against recombinant GH.Case presentation: We report a case of a 5-year-old Pakistanist boy evaluated for severe growth failure (heigh <8.07 <...

Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.Description of the caseWe present a 5-year-...

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Background: Subcutaneous calcification is a rare clinical symptom in infancy. Progressive evolution and association with brachydactyly could be indicators of Albright hereditary osteodystrophy (AHO). In clinical practice, AHO is difficult to diagnose because of clinical heterogeneity. Typical features of AHO without any evidence of hormone resistance are termed pseudopseudohypoparathyroidism (PPHP; OMIM 612463).Case report: Male patient referred to study...

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

Background: The advantages of physical activity are particularly emphasized in children with type-1-diabetes and 60 minutes of regular daily activity is recommended. However, reports suggest that children with type-1-diabetes perform less than the recommended daily activity and are less active than their non-diabetic peers. This study aimed to: i) Identify barriers and sources of support for exercise performance in children and adolescents with type-1-diabetes. ii) Identify st...

Background: The ECOS observational study in Spain (NCT01376921) aims to evaluate adherence to r-hGH therapy prescribed via the easypod™ electromechanical auto-injector device and to analyse factors that may influence adherence in paediatric patients. Easypod™ administers pre-set doses of Saizen® r-hGH and stores accurate records of each dose and injection taken, which can then be shared with the HCP for evaluation of the patient’s adherence.<...