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

hrp0082p2-d1-283 | Bone | ESPE2014

Hypophosphatemic Rickets in Norwegian Children: Genotypes, Phenotypes, and Complications

Rafaelsen Silje , Raeder Helge , Johansson Stefan , Bjerknes Robert

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

hrp0082p2-d1-284 | Bone | ESPE2014

Increased Fracture Rate in Children and Adolescents with Marfan Syndrome

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

hrp0082p2-d1-285 | Bone | ESPE2014

Mutations in IFITM5 Leading to Prenatal and Postnatal Signs of Dominant Osteogenesis Imperfecta

Hoyer-Kuhn Heike , Netzer Christian , Becker Jutta , Schoenau Eckhard , Semler Oliver

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

hrp0082p2-d1-286 | Bone | ESPE2014

Musculoskeletal Health in Children with Crohn’s Disease at Diagnosis: Dynamic Muscle Function, Tibia Cortical and Trabecular Bone Density and Vertebral Fracture Prevalence

Ward Leanne M , Rauch Frank , Ma Jinhui , Scharke Maya , Cosgrove Heather , Matzinger Mary Ann , Shenouda Nazih , Benchimol Eric I , Mack David R

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

hrp0082p2-d1-287 | Bone | ESPE2014

Case report: A Novel mutation in the Calcium Sensing Receptor in a Welsh Family with Hypercalcaemia

Soni Astha , Frerichs Carley , Ramakrishnan Renuka , Dharmaraj Poonam

Background: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder due to inactivating mutations in the calcium sensing receptor (CASR). FHH is generally benign with asymptomatic hypercalcaemia, low urinary calcium excretion and normal or mildly elevated PTH.Objective and hypotheses: We report a novel mutation in CASR in a family with three generations affected with hypercalcaemia.Method: A 15 -month-old boy ...

hrp0082p2-d1-288 | Bone | ESPE2014

A New Missense Mutation in FGF23 Gene in a Male with Hyperostosis-hyperphosphatemia Syndrome

Abbasi Farzaneh , Ghafouri-Fard Soudeh , Ebrahim-Habibi Azadeh

Background: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive metabolic disorder, characterized by recurrent painful swelling of long bones, periosteal new bone formation and cortical hyperostosis or intramedullary sclerosis, hyperphosphatemia and low intact fibroblast growth factor 23 (FGF23) protein levels. It is caused by mutations in two genes, N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) and FGF23.<p class="abste...

hrp0082p2-d1-289 | Bone | ESPE2014

Pseudohypoparathyroidism Type 1A Due to Novel GNAS Mutation

Levy-Shraga Yael , Gruber Noah , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Pinhas-Hamiel Orit

Background: Pseudohypoparathyroidism (PHP) encompasses a group of rare disorders defined by target organ unresponsiveness to parathyroid hormone (PTH). Patients with PHP type 1A carry heterozygous mutations of the maternal GNAS gene that encodes the α-subunit of the G protein. This protein is coupled to the PTH receptor as well as to other heptahelical receptors - TSH, GHRH and gonadotropins receptors.Objective and hypotheses: To describe a...

hrp0082p2-d1-290 | Bone | ESPE2014

Sleep-related Breathing Disorders in Pycnodysostosis

Turan Serap , Atay Zeynep , Gokdemir Yasemin , Bas Nilay , Haliloglu Belma , Abali Saygin , Bas Serpil , Ersu Refika , Bereket Abdullah

Background: Pycnodysostosis is an autosomal recessive disease characterized by short stature, osteosclerosis, increased bone fragility. In these patients maxillary and mandibular hypoplasia, flattening of the mandibular angle, long soft palate, narrow palate structure can lead to pharyngeal narrowing and obstructive sleep apnea syndrome (OSAS).Objective and hypotheses: Our aim was to evaluate sleep disordered breathing in children with pycnodysostosis.</...

hrp0082p2-d1-291 | Bone | ESPE2014

Cystinosis as a Cause of Hypophosphatemic Rickets: a Single-Center Experience

Dogan Murat , Bulan Keziban , Kaba Sultan

Introduction: Cystinosis is an inherited (autosomal recessive) lysosomal storage disorder characterized by accumulation of cystine crystals in kidney, liver, eyes and brain. Patients can present to pediatric endocrinology clinics with growth retardation and vitamin D resistant rickets particularly in nephropathic infantile form. Here, we aimed to present genetic and clinical spectrum of ten patients who have been followed with the diagnosis of cystinosis, a rare cause of hypop...

hrp0082p2-d1-292 | Bone | ESPE2014

Pseudohypoparathyroidism Type Ib: Two Cases with Different Clinical Presentation

Balsamo Claudia , Baronio Federico , Marsigli Angelica , Bonifacci Valentina , Mantovani Giovanna , Molinaro Angelo , Juppner Harald , Visconti Paola , Mazzanti Laura , Balsamo Antonio

Background: Sporadic pseudohypoparathyroidism type Ib (spor-PHP-Ib) is caused by GNAS methylation alterations with loss of imprinting at the exon A/B differentially methylated region (DMR), without genetic deletions disrupting the STX16 ICR. These patients classically display hormone resistance limited to PTH and TSH with no Albright hereditary osteodistrophy (AHO).Objective and hypotheses: We describe two cases with the same imprinting methylat...

hrp0082p2-d1-293 | Bone | ESPE2014

A Very Rare Case of Rickets: Fanconi–Bickel Syndrome

Djermane Adel , Ladjouze Asmahane , Ouarezki Yasmine , Vuillaumier-Barrot Sandrine , Khodja Benfetima Ali , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Bensmina Menoubia , Anane Tahar , Laraba Abdennour

Background: Fanconi–Bickel syndrome (FBS) is a rare glycogen storage disease characterized by hepato-renal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. We present the case histories of two sisters who were diagnosed with FBS.Case reports: The proband, Lina, was referred to our clinic for growth retardation and abdominal distention aged 27 months. She is the 4th child of consanguineous parents...

hrp0082p2-d1-294 | Bone | ESPE2014

Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome

Stagi Stefano , Lapi Elisabetta , Scalini Perla , Greco Paolo Del , Ricci Franco , Marino Achille , de Martino Maurizio , Seminara Salvatore

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...