ESPE Abstracts

Introduction: Open near-total pancreatectomy remains the standard treatment for medically unresponsive diffuse Congenital Hyperinsulinism (CHI). This procedure involves significant postoperative morbidity, prolonged recovery and a high risk of adhesions. Minimally invasive surgery (MIS) near-total pancreatectomy in infants with diffuse CHI may reduce these complications but is challenging due to the risk of common bile duct (CBD) injuries. Intraoperative compl...

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...

Background: Activity dependent neuroprotective protein (ADNP) syndrome (OMIM: 615873), also known as Helsmoortel Van Der Aa syndrome (HVDAS), is an autosomal dominant monogenic neurodevelopmental disorder caused by ADNP gene mutations. It is characterized with impaired learning and motor skills, hypotonia, dysmorphic features, organ anomalies, behavioral and psychiatric problems.Aim: To present a female patient with HVDA...

Background: Rahman syndrome (RMNS) is an autosomal dominant overgrowth-intellectual disability syndrome caused by heterozygous mutations in H1-4 gene. Other frequent features reported in RMNS patients include: facial dimorphism, joint hypermobility, hypotonia, kyphoscoliosis, congenital heart defect, abnormal MRI image of brain and behaviour problems.Case presentation: We report a 11-year-old girl born from 3rd</sup...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Introduction: Worldwide the incidence of small for gestational age (SGA) births varies between 2 and 10%. In Bulgaria there is not enough data for the SGA births prevalence in the last 20 years. There is only one population based study focused on late SGA complications that found the world-known relative share of SGA children who don’t catch up - about 10%. The indicated growth hormone treatment is still not reimbursed in the country for short SGA childr...

Background: Smartphones are becoming increasingly popular and powerful across the globe, which, in turn, has provided unforeseen opportunities in the digital health space. The increased capabilities of smartphones have allowed the incorporation of Augmented Reality (AR) capabilities that merge input from their cameras with additional, augmented annotations and representations. While there has been research on the use of AR in managing paediatric diabetes,1 to ...

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...