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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Rapid Free Communications

Bone, Growth Plate & Mineral Metabolism 1

hrp0089rfc2.1 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

High-Resolution MRI Imaging of Bone-Muscle-Fat in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy: Results from the ScOT-DMD Study

Joseph Shuko , Dunne Jennifer , Elsharkasi Huda , Foster John , Horrocks Iain , Di Marco Marina , McComb Christine , Ahmed S Faisal , Wong Sze Choong

Background: The pathophysiological mechanism of skeletal fragility in Duchenne Muscular Dystrophy (DMD) is unclear.Objective: To compare trabecular bone microarchitecture, cortical geometry, muscle area and fat fraction (FF) at distal femur and vertebral bone marrow adiposity (BMA) between DMD and controls.Method: Bone-muscle and muscle FF were assessed using 3T MRI and Dixon technique. BMA was assessed using 1H-MRS. Results expres...

hrp0089rfc2.2 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

S-25OHD is Associated with Hand Grip Strength and Myopathy at Five Years in Girls: An Odense Child Cohort Study

Al-Jwadi Rada Faris , Jespersen Eva , Dalgard Christine , Bilenberg Niels , Christesen Henrik Thybo

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...

hrp0089rfc2.3 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Measured Free 25-Hydroxyvitamin D in Healthy Children and Relationship to Total 25-Hydroxyvitamin D, Calculated Free 25-Hydroxyvitamin D and Vitamin D Binding Protein

Bosch i Ara Laura , Lopez-Molina Maria , Santillan Cecilia , Murillo Marta , Valls Aina , Bel Joan

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

hrp0089rfc2.4 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

hrp0089rfc2.5 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Identification of Characteristic Neurological Complications in Infants with Achondroplasia by Routine MRI Screening

Dougherty Harry , Shaunak Meera , Irving Melita , Thompson Dominic , Cheung Moira S

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...

hrp0089rfc2.6 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

The Novel R211Q POP1 Homozygous Mutation Causes Severe Short Stature But Uniquely Only Subtle Skeletal Dysplasia

Abdulhadi-Atwan Maha , Klopshtock Tehila , Sharaf Muna , Weinberg-Shokrun Ariella , Levy-Lahad Ephrat , Zangen David

Background: Processing of Precursor 1 (POP1) is a core protein component of the Ribonuclease-Mitochondrial RNA Processing (RNase-MRP) enzymatic complex, an essential complex in all eukaryotes. Mutations in RMRP, encoding the RNA moiety of the complex cause cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders, characterized by severe disproportionate short stature. Recently, five patients harboring mutations in POP1 have been report...