ESPE Abstracts

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...

Background: Effective clinical care and research in disorders of sex development (DSD), as well as assessment of long-term outcome of these rare conditions, requires multicentre collaboration across national boundaries and across multiple clinical and research disciplines. This registry is currently funded by the UK MRC as the International DSD Registry (www.i-dsd.org) which adheres to the highest standards of data governance and security. Fr...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care across Scotland. A key role identified by the nurses group is developing information leaflets supporting patient care. It was recognized that there was no local unified approach to the management of adrenal insufficiency, especially in the home, community and acute setting. Of particular concern was the lack of a pathway of care from home to hospital and involvement ...

Background: Hypophosphatemic rickets (HR) are rare, inheritable disorders caused by excessive renal phosphate wasting. Despite a generalized mineralization defect, patients with HR are reported with a lower risk of fracture.Objective and hypotheses: The aim of this study was to evaluate the effect of bone -geometry, -microarchitecture and volumetric BMD (vBMD) on the estimated bone strength in adult patients with HR using high-resolution peripheral quant...

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...