ESPE Abstracts

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.<...

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...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

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-...

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...

Background: GRB10 negatively regulates IGF1 signalling, influences growth and promoter polymorphisms are associated with GH response1. GRB10 knockout-mouse models display foetal overgrowth2, however, the mouse model has only partial similarity to human growth3. There is evidence that the zebrafish is an appropriate model to study growth4 and has the advantage of being easily genetically manipulated.<p class="abs...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...