ESPE Abstracts

The approach to the management of a child presenting with Hypo or Hypercalcaemia requires an understanding of the physiological regulation of plasma calcium and the key hormones and receptors that are important components. These include Vitamin D, Parathyroid hormone (PTH), the Calcium sensing receptor and renal function. The differential diagnosis for both these conditions is wide and it is important that relevant investigations are undertaken at presentation prior to the ini...

Background: The diagnosis of turner syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosis and treatment there still remain patients with TS who present late with delayed puberty. Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypotheses: To assess the effect of late GH ...

Background: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive disorder, within the family of sclerosing bone dysplasias. It is a distinctive type of osteopetrosis characterised by a unique pattern of osteosclerosis predominantly involving the metaphyseal margins of the long tubular bones. OSMD is characterised by skeletal deformity and multiple fractures and associated clinically with developmental delay, hypoton...

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...

Introduction: Prescribing of recombinant human GH for growth failure in UK children is based on guidance from the National Institute of Clinical Excellence. In 2013, the BSPED initiated this national audit of children/adolescents newly-prescribed GH to monitor trends in NHS prescribing practice. Here we have examined these trends from 2013 to 2016.Patient population: All patients aged ≤16.0 years newly starting GH therapy in the UK.<p class="ab...

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

Background: i.v. Pamidronate (PAM) has been used in the treatment of osteogenesis imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent i.v. Zoledronic acid (ZOL).Objective and hypotheses: To determine the clinical efficacy of i.v. PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Me...

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...

Background: Vitamin D and/or calcium deficiency are very common in many areas worldwide, causing nutritional rickets, osteomalacia, hypocalcaemic seizures, cardiomyopathy, and muscle weakness. Nutritional rickets is defined as impaired mineralization at the growth plate. Untreated rickets leads to bone deformity, disability, obstructed labor, and reduced quality of life. The prevalence of nutritional rickets is increasing globally.Objective and methods: ...

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...