Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082p1-d2-34 | Bone | ESPE2014

High Prevalence of Low Bone Mass in Adolescents with Non-Transfusion Dependent Hb E/β-thalassemia

Nakavachara Pairunyar , Petchkul Jaturat , Jeerawongpanich Gritta , Viprakasit Vip

Background: Hb E/β-thalassemia is the most common β-thalassemia disorder in Southeast Asia. Children with Hb E/β-thalassemia vary greatly in red cell transfusion requirement. Some are transfusion dependent (TD) whereas others are non-TD (NTD). Iron-overload associated with transfusion dependency causes endocrinopathies such as delayed puberty, short stature and low bone mass. The prevalence of these complications are high in TD patients with iron overload. While...

hrp0082p1-d2-35 | Bone | ESPE2014

Assessment of Quality of Life Data After 4 Monthly S.C. Doses of a Human Monoclonal Anti-Fibroblast Growth Factor 23 Antibody (KRN23) in Adults with X-linked Hypophosphatemia

Ruppe Mary , Zhang Xiaoping , Imel Erik , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Peacock Munro , Carpenter Thomas

Objectives: In X-linked hypophosphatemia (XLH), abnormally elevated serum Fibroblast growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption, low serum phosphorus, inappropriately normal 1,25-dihydroxyvitamin D, and development of rachitic deformities. The effect of KRN23 on health-related quality of life (HRQL) was assessed.Methods: Open-label KRN23 was given s.c. every 28 days up to four doses to 28 adults with XLH (2...

hrp0082p1-d2-36 | Bone | ESPE2014

Sun Protection Habits and Calcium Intake in Children with Malignancy

Levy-Shraga Yael , Pinhas-Hamiel Orit , Ben Ami Michal , Yeshayahu Yonatan , Temam Vered , Cohen Rinat , Modan-Moses Dalit

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

hrp0082p1-d2-37 | Bone | ESPE2014

Vitamin D Levels and Effects of Vitamin D Replacement in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

Scalini Perla , Stagi Stagi Stefano , Iurato Chiara , Menchini Camilla , Manoni Cristina , Anzillotti Giulia , de Martino Maurizio , Seminara Salvatore

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

hrp0082p1-d2-38 | Bone | ESPE2014

Increased Rates of Infantile Hypercalcaemia Following Guidelines for Antenatal Vitamin D3 Supplementation

Amato Lisa A , Neville Kristen A , Hameed Shihab , Quek Wei Shern , Verge Charles F , Woodhead Helen J , White Chris P , Horvath Andrea Rita , Walker Jan L

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

hrp0082p1-d2-39 | Bone | ESPE2014

Continuous s.c. Recombinant PTH1–34 Pump Therapy in Congenital Hypoparathyroidism Associated with Malabsorption

Saraff Vrinda , Hogler Wolfgang

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...

hrp0082p1-d2-40 | Bone | ESPE2014

Effects and Limitations of Cinacalcet Therapy in Neonatal Severe Hyperparathyroidism

Doehnert Ulla , Goepel Wolfgang , Hoeppner Wolfgang , Hiort Olaf

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...

hrp0082p1-d2-41 | Bone | ESPE2014

Young Adults with Klinefelter Syndrome and Congenital Anorchia Treated with Testosterone Have Normal Bone and Muscle Mass but Increased Central Adiposity

Wong S C , Scott D , Tandon S , Ebeling P , Zacharin M

Background: Decreased bone density using DXA is reported in mixed cohorts of testosterone treated and testosterone naïve men with Klinefelter syndrome (KS). Bone mass and body composition in men with congenital anorchia (CA) have never been previously reported.Objective and hypotheses: Men with KS and CA treated with testosterone from adolescence have normal bone mass and body composition.Method: Whole-body DXA and tibial (66%...

hrp0082p1-d2-42 | Bone | ESPE2014

Decreased Bone Density in Boys with Klinefelter Syndrome: Results of a Placebo-Controlled Clinical Trial Using Low-Dose Androgen Treatment for 2 Years

Ross Judith , Thodberg Hans Henrik , Bardsley Martha , Gosek Ania

Background: Klinefelter syndrome (KS) is a male genetic disorder defined by the karyo type 47,XXY. Adult males with KS are at increased risk for osteoporosis, based on androgen deficiency. Androgen replacement is standard in adolescent and adults with KS, but has not been used earlier in childhood. We performed a clinical trial to study the effects of childhood, low-dose androgen replacement on bone density in boys with KS.Objective and hypotheses: To me...

hrp0082p1-d2-43 | Bone | ESPE2014

Study of Mineral and Bone Metabolism in Pediatric Patients with Inflammatory Bowel Disease

Aguilar-Quintero Maria , Caballero-Villarraso Javier , Canete Maria Dolores , Romero-Urrutia Alicia , Canete Ramon

Introduction: Knowledge of changes in bone-mineral metabolism in patients with inflammatory bowel disease (IBD) is of particular interest, since in many patients bone metabolic disease is an epiphenomenon of the underlying pathology. Impaired bone mineralisation and diminished spinal bone mineral density (BMD) are reported in children with IBD, together with increased incidence of vertebral fracture. The short- and long-term implications of reduced BMD are especially important...

hrp0082p1-d2-44 | Bone | ESPE2014

Vitamin D Deficiency: a National Threat to Adolescent Health in Saudi Arabia

Al Dubayee Mohammed , Albuhairan Fadia , Alalwan Ibrahim , Al Shahri Suleiman , Tamim Hani , Magzoub Mohieldin , Al Tamim Walid , Ahmed Nasreldin

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

hrp0082p1-d2-45 | Bone | ESPE2014

Longitudinal Changes of Bone Mineral Content in Children with Cystic Fibrosis

Chirita-Emandi Adela , Khanna Sheila , Kyriakou Andreas , McNeilly Jane , Devenny Anne , Ahmed Faisal

Background: A quarter of young adults with cystic fibrosis (CF) may have osteoporosis. However, children with CF do not seem to have an increased risk of fractures.Objective: We aimed to examine the factors that may determine longitudinal changes in bone mineralisation in children with CF.Method: 101 children (51 females) had DXA performed and the data were expressed as expected bone mineral content for bone area SDS (BMCSDS). Of t...