ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Volume 82 | ESPE2014 | Next issue

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

Poster Category 3

Bone

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Autoimmune Endocrine Disease
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Bone (1)

hrp0082p3-d1-660 | Bone | ESPE2014

Normal Serum Calcium Levels and Vitamin-D Dependent Rickets Type 2 (VDDR-II): a Novel Vitamin D Receptor Mutation

Goksen Damla , Ozen Samim , Kitanaka Sachiko , Isojima Tsuyoshi , Cogulu Ozgur , Darcan Sukran

Background: VDDR-II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.Objective and hypotheses: 2 years old Turkish girl first offspring of consanguineous parents admitted to the hospital for the evaluation of total alopecia and bilaterally genu varum deformity. She was born with normal pilosi...
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hrp0082p3-d1-661 | Bone | ESPE2014

No Gene Alterations in 11 Genes Associated with Isolated Hypoparathyroidism

Gucev Zoran , Sabolic Vesna , Tasic Velibor , Mitsui Toshikatsu , Hasegawa Toshikatsu

Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...
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hrp0082p3-d1-662 | Bone | ESPE2014

Hypercalcemia due to Subcutaneous Fat Necrosis in a Newborn Successfully Treated with Pamidronate Infusion Therapy

Atas Ali , Geter Suleyman , Emin Guldur M

Introduction: Subcutaneous fat necrosis (SFN) of the newborn is an inflammatory disorder of the adipose tissue that rarely disease which may be complicated with potentially life-threatening hypercalcemia. The etiology of hypercalcemia was related to persistently elevated 1,25-dihydroxyvitamin D3 levels.Case: The case 47 days (length 0.3 SDS; weight −1.48 SDS) who presented sucking difficulty and debility duo to hypercalcemia with an init...
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hrp0082p3-d1-663 | Bone | ESPE2014

Hypovitaminosis D: Factors Affecting in Spanish Children and Adolescents

Leis Rosaura , Vazquez Rocio , Maria Seoane Luisa , Barja-Fernandez Silvia , Martinez-Silva Isabel , Aguilera Concepcion M , Olza Josune , Gil-Campos Mercedes , Castro-Feijoo Lidia , Cadarso-Suarez Carmen , Gil Angel , Tojo Rafael

Background: Vitamin D adequate concentration is essential for growth, development and health during vital cycle. Hypovitaminosis D pandemic is associated with a wide range of pathologies.Objective and hypotheses: The objectives of the present study were to characterize vitamin D status in children and adolescents residing in Galicia (Northwest of Spain, latitude 43°N) and to determine if serum 25-hydroxy-vitamin D (25(OH)D) concentration is related ...
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hrp0082p3-d1-664 | Bone | ESPE2014

Abstract withdrawn....
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hrp0082p3-d1-665 | Bone | ESPE2014

Survey of Vitamin D Status in Breastfeeding Infants Under the Age of 6 Months Attending the Growth Monitoring Clinic at Rubaga Hospital

Cissy Nalunkuma , Paul Laigong , Edison Mworozi , Fox Larry

Background: Vitamin D deficiency has been found to occur in peoples of all ages worldwide, including those living in sunny climates. Sun exposure is the main source of this vitamin for many people but its utilization is influenced by many factors such as lifestyles and availability of sunlight. The breastfeeding infant is particularly at increased risk of deficiency because of its dependence on maternal stores.Objective and hypotheses: The hypothesis for...
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hrp0082p3-d1-666 | Bone | ESPE2014

Hypercalciuria in Patients with Coexisting Osteogenesis Imperfecta and Renal Tubular Acidosis

Aguiar Luisa , Braden Gregory , Allen Holley

Background: Hypercalciuria, short stature and low bone mineral density are features of distal renal tubular acidosis (dRTA) and osteogenesis imperfecta (OI). If untreated, the presence of dRTA in patients with OI may worsen the prognosis and lead to poorer height outcomes. We describe two unrelated children with an unusual association between OI and dRTA.Cases: Patient 1 is a 7-year-old female diagnosed prenatally with a COL1A2 mutation and postnatally w...
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hrp0082p3-d1-667 | Bone | ESPE2014

Metabolic and Bone Disorders in Vertically HIV-Infected Children

Vivanco Maritza , Riveros Constanza , Balboa Paulina , Hevia Mariana , Vizueta Eloisa , Maria Chavez Ana , Villarroel Julia , Maria Alvarez Ana , Torrejon Claudia

Background: Life expectancy of children with human immunodeficiency virus (HIV) has increased due to highly active antiretroviral therapy. Metabolic disorders and changes in bone mineral density (BMD) are common in adult patients with HIV. There are few studies evaluating metabolic and bone involvement in children.Objective and hypotheses: To evaluate metabolic disorders and BMD in vertically HIV-infected children in four Chilean hospitals.<p class="...
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hrp0082p3-d1-668 | Bone | ESPE2014

Lumbar Spine Areal Bone Mineral Density and 25-Hydroxyvitamin D Serum Concentrations at 2-Year Follow-up in Patients with Osteogenesis Imperfecta

Piona Claudia , Moser Giovanni , Ramaroli Diego , Francesca Malesani , Morandi Grazia , Gaudino Rossella , Antoniazzi Franco

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...
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hrp0082p3-d1-669 | Bone | ESPE2014

Achondroplasia and Neurological Disorders

Saraoui Fatima , Fedala Soumeya , Mahdi Haddam Ali el , Chentli Farida , Meskine Djamila , Ahmed Ali Leila

Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Objective and hypotheses: Find the frequency of neurological complications...
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hrp0082p3-d1-670 | Bone | ESPE2014

Primary Hypomagnesaemia with Secondary Hypocalcaemia (HSH): an Uncommon Diagnosis for a 2 Month Old Afro-Caribbean Formula Fed Infant Presenting with Seizures

Ihe Chibuzor , Kalitsi Jennifer , Kapoor Ritika , Buchanan Charles

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...
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hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...
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hrp0082p3-d1-672 | Bone | ESPE2014

Obese Adolescent with Gait and Depression

Zdravkovic Vera , Zivaljevic Vladan , Bojic Vadislav , Jesic Maja , Dragutinovic Natasa , Sajic Silvija

Introduction: Hypercalcaemia is an uncommon electrolyte disorder, frequently discovered incidentally based on routine blood chemistry results.Case report: A 14-year-old adolescent was admitted to the Endocrinology Department due to obesity, gait and depression. His weight had been gradually increasing over the previous 2 years, and on admission his BMI was 31.5 kg/m2. The pain in his legs started a year ago, but worsened progressively and in t...
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