ESPE Abstracts

Background: Neonatal severe hyperparathyroidism (NSHPT) has been associated with inactivating mutations of the calcium-sensing receptor (CASR) gene. Impaired inhibition of PTH secretion by extracellular ionized calcium and decreased urinary excretion of calcium leads to severe hypercalcemia in the first days of life. Calcium responsiveness of the CaSR is amplified by type 2 calcimimetic agents like cinacalcet, which has been able to normalize PTH and calcium levels in cases of...

X-linked hypophosphatemia (XLH) is the most common genetic disorder of phosphate homeostasis. It is caused by inactivating mutations in the PHEX gene, which encodes a phosphate regulating endopeptidase predominantly expressed in osteoblasts, osteocytes, and odontoblasts.In children there is a broad phenotypic spectrum of XLH ranging from isolated hypophosphatemia without clinical signs up to severe symptoms, such as rickets, extreme lower limb d...

Calcium and phosphorus represent the main building material for bone and growth plate mineralization and bone stiffness. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone mineral supply is highest during phases of rapid growth, such as during pregnancy, infancy and puberty. The body can be deprived of calcium either through low dietary calcium intake and/or low vitamin D. ...

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

Background: The SNAP study is a prospective fracture study of children with chronic inflammatory and/or disabling conditions.Objective and Hypotheses: The overall aim of the study is to establish if there is a causal link between measured body-size related bone density and low trauma fracture.Method: 280 children, aged 5–18 years, from seven disease groups namely; acute lymphoblastic leukaemia (ALL), rheumatological disease, i...

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...

Background: The introduction of second generation antipsychotic (SGA) drugs for the treatment of bipolar disorders has been associated with metabolic adverse reactions. Many studies cite significant weight gain as a common side effect, which is often attributed to dysfunction of glucose homeostasis and the development of dyslipidaemia. This in turn may trigger the early pathogenesis observed for example in type-2-diabetes. Factors controlling energy metabolism are largely cons...

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

Background: Bisphosphonates act to increase bone mass by inhibition of osteoclastic bone resorption and reduction of bone turnover. Since the successful use of bisphosphonates in children with osteogenesis imperfecta, a broad range of pediatric indications with variable underlying pathomechanism emerged. While the use of bisphosphonates appears to be safe in children, data on risk factors for acute-phase reaction are sparse. A systematic characterization of si...

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...