ESPE Abstracts

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...

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...

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...

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...

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...

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: 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...

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%...

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...

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...

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...

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...