ESPE Abstracts

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is reported to be common in patients with rheumatoid arthritis and associated with disease activity, physical disability, and cardiometabolic intermediates; data in patients with juvenile idiopathic arthritis (JIA) are inconsistent.Objective and hypotheses: To assess serum 25(OH)D in children, adolescents, and young adults with JIA, and to identify the risk factors for vitamin D deficiency in JIA patie...

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

Background: Skeletal dysplasia is the main cause of disproportionate short stature. The severity may vary. The present patient had disproportionate short stature with brachydactyly.Patient and method: A boy of 5 years old presented with height 108.9 cm (−1.8 S.D.), sitting height/height ratio was +3.4 S.D., short hands and feet with short metacarpal 4 and metatarsal 4 on both sides. He had increased lumbar lordosis and...

Introduction: Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published in recent years. Vitamin D deficiency during pregnancy has been related to adverse events both in mother and child. Plasma 25-OH vitamin D (25(OH)D) levels in the newborn are dependent on maternal deposits and show a close correlation with maternal levels; thus, neonates of vitamin D-deficient mothers present a greater risk of hypocalcaemia, rickets and a highe...

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

Background: Low bone mass during growth may increase risk of fracture. Adequate reference data for bone mineral density (BMD) are needed to identify adolescents with bone deficit.Objective and hypotheses: We aimed to provide normative values and reference curves for BMD in Korean adolescents and young adults.Method: Using the data from Korean Nutrition Health and Nutrition Examination Survey (KNHANES) in 2008–2011, a total of ...

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...