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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Bone & Mineral Metabolism P1

hrp0086p1-p98 | Bone & Mineral Metabolism P1 | ESPE2016

Knock in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-dependent Protein Kinase A Activation: A Model of Acrodysostosis Type 1?

Le Stunff Catherine , Tilotta Francoise , Sadoine Jeremy , Le Denmat Dominique , Clauser Eric , Bougneres Pierre , Chaussain Catherine , Silve Caroline

Background: In humans, activating mutations in the PRKAR1A gene cause acrodysostosis1 (ACRDYS1). Two striking features of this rare developmental and skeletal disorder are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling caused by the PRKAR1A mutations.Objective and hypotheses: Document the consequences of the germline expression of a PRKAR1A mutation causing a dominant repression ...

hrp0086p1-p99 | Bone & Mineral Metabolism P1 | ESPE2016

Automated Greulich-Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases

Choukair Daniela , Huckmann Annette , Mittnacht Janna , Inta Ioana , Klose Daniela , Schenk Jens Peter , Bettendorf Markus , Thodberg Hans Henrik

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...

hrp0086p1-p100 | Bone & Mineral Metabolism P1 | ESPE2016

Cord 25-Hydroxyvitamin D and Infant Cranial Growth: An Odense Child Cohort Study

Egge Sissil , Christensen Nikolas , Lykkedegn Sine , Jensen Tina Kold , Christesen Henrik Thybo

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...

hrp0086p1-p101 | Bone & Mineral Metabolism P1 | ESPE2016

Effect of Bisphosphonates on Bone Fragility Due to Chronic Liver Disease in Ten Children

Gonzales Emmanuel , Darce Martha , Usardi Alessia , Linglart Agnes

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

hrp0086p1-p102 | Bone & Mineral Metabolism P1 | ESPE2016

Radiologically Confirmed Fractures in a Scottish Nationwide Cohort of Boys with Duchenne Muscular Dystrophy

Joseph Shuko , Di Marco Marina , Abu-Arafeh Ishaq , Baxter Alex , Cordeiro Nuno , Horrocks Iain , MacLellan Linda , McWilliam Kenneth , Naismith Karen , O'Hara Ann , Faisal Ahmed S , Wong SC

Background: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...

hrp0086p1-p103 | Bone & Mineral Metabolism P1 | ESPE2016

Monostotic Fibrous Dysplasia is a Single Disorder Caused by Somatic Mosaic Activating Mutations in GNAS

Shibata Hironori , Narumi Satoshi , Ishii Tomohiro , Sakamoto Yoshiaki , Nishimura Gen , Hasegawa Tomonobu

Background: Monostotic Fibrous Dysplasia (MFD) is thought to be caused by somatic mosaic activating mutations in GNAS. However, previous GNAS mutation analyses of MFD patients using direct sequencing of bone samples detected activating GNAS mutations only in 21 of 40 cases (52.5%) (Hum Pathol 2012; 43: 1234). We reported that next generation sequencing (NGS) detected somatic activating GNAS mutations sensitively from peripheral bloo...

hrp0086p1-p104 | Bone & Mineral Metabolism P1 | ESPE2016

Clinically Significant Fracture Incidence in Czech Children: A Population-based Study

Soucek Ondrej , Lebl Jan , Sumnik Zdenek

Background: Before reaching adulthood, every second boy and every third girl will sustain a fracture. This growth spurt-related bone fragility is partially caused by a quick longitudinal growth and a relatively slower increase in bone width. However, no study has focused particularly on clinically significant fractures, a criterion for osteoporosis diagnostics.Objective and hypotheses: The aim of this study was to describe the incidence of clinically sig...

hrp0086p1-p105 | Bone & Mineral Metabolism P1 | ESPE2016

Effects of Selective GPER-1 Agonist G1 on Bone Growth

Iravani Maryam , Karimian Elham , Chagin Andrei , Savendahl Lars

Background: Abnormal growth is a common problem in children. Some children do not respond to growth hormone therapy and alternative treatments selectively targeting the growth plate are needed. High doses of estrogens induce growth plate closure and stop further growth. However, high-dose estrogen treatment may also have severe side effects, including increased risk of cancer and reduced fertility. The expression of estrogen receptors (ER), including GPER-1, has been demonstra...

hrp0086p1-p106 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Density, Pubertal Status and Ability to Walk are Associated to Fracture Incidence in Patients with Rett Syndrome

Rothenbuhler Anya , Lahlou Najiba , Bienvenu Thierry , Buisson Nadia Bahi , Linglart Agnes

Background: Rett (RTT) syndrome is a neurodevelopmental disorder related to mutations in the MECP2 gene that affects girls almost exclusively. In Rett syndrome patients have a high incidence of fractures that can occur at a young age.Objective and hypotheses: One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.Method: 89 RTT patients bearing a MEC...

hrp0086p1-p107 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Chiarelli Francesco , Manoni Cristina , Parpagnoli Maria , Verrotti Alberto , Lapi Elisabetta , Giglio Sabrina , Dosa Laura , de Martino Maurizio

Background: Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism in childhood and adolescence are very rare.Objective and hypotheses: The purpose of our study was to evaluate bone status and metabolism in a cohort of KS children and adolescents.Method: This cross-sectional study involves 40 (mean age 13.7±3.8 years) KS children and adolescents and 80 age-mat...

hrp0086p1-p108 | Bone & Mineral Metabolism P1 | ESPE2016

Tolerability and Feasibility of Whole Body Vibration and its Effects on Muscle Function and Bone Health in Patients with Dystrophinopathy

Petryk Anna , Polgreen Lynda , Marsh Jamie , Lowe Dawn , Hodges James , Karachunski Peter

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

hrp0086p1-p109 | Bone & Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

hrp0086p1-p110 | Bone & Mineral Metabolism P1 | ESPE2016

Increase in Sclerostin After Rapid Weight Loss in Children

Birkebaek Niels H , Frystyk Jan , Lange Aksel , Holland-Fischer Peter , Kristensen Kurt , Rittig Soren , Vilstrup Henrik , Henning Gronbaek

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

hrp0086p1-p111 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Impact of Conventional Medical Treatment on Bone Mineral Density and Bone Turnover in Adult XLH Patients: A 6 Year Cohort Study

Shanbhogue Vikram Vinod , Beck-Nielsen Signe Sparre

Background: X-linked hypophosphatemia (XLH) are rare, inheritable disorders caused by excessive renal phosphate wasting manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, where it heals rickets and rescues some of the growth potential prior to fusion of the growth plates, it is controversial whether adults should continue therapy. There is little evidence for the ...

hrp0086p1-p112 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , Shepherd S , McMillan M , Ahmed S F , Shaikh M G

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

hrp0086p1-p113 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Extension of The Bone Health Index to Adults, and Reference Curves of Four Indices of Cortical Bone for Healthy Europeans

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

hrp0086p1-p114 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Extension of Automated Bone Age Determination to the End of Puberty

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...

hrp0086p1-p115 | Bone &amp; Mineral Metabolism P1 | ESPE2016

A European Survey to Identify New Roads for Care, Training and Research Around Rare Metabolic Bone Diseases

Fernandez Isabelle , Ahmed Syed Faisal , Bishop Nick , Brandi Maria Luisa , Doulgeraki Artemis , Haeusler Gabriele , Hogler Wolfgang , Kostik Mikhail , Makitie Outi , Moreno Gabriel Martos , Nilsson Ola , Schnabel Dirk , Šumnik Zdenek , Tillmann Vallo , Turan Serap , Zillikens Carola , Linglart Agnes , on behalf of the European Metabolic Bone Network

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

hrp0086p1-p116 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Clinical and Molecular Characterization of 25-Hydroxylase Deficiency in Saudi Patients

Imtiaz Faiqa , Bakhamis Sarah , AlSagheir Osamah , AlRajhi Abdulrahman

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

hrp0086p1-p117 | Bone &amp; Mineral Metabolism P1 | ESPE2016

No Severe Hypercalcemia During a 12-Month High-Dose Vitamin D Intervention in Infants

Enlund-Cerullo Maria , Valkama Saara , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Viljakainen Heli , Andersson Sture , Makitie Outi

Background: Vitamin D supplementation is widely recommended to infants, but the optimal dose remains unclear. Vitamin D regulates calcium metabolism, and overdosing and high intake may result in hypercalcemia.Objective and hypotheses: We measured serum pH-adjusted ionized calcium (Ca-ion/pH 7.40) concentrations at 6 and 12 months and 25-hydroxyvitamin D (S-25-OHD) at 12 months in order to evaluate the risk of hypercalcemia during vitamin D3 su...

hrp0086p1-p118 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Management of Tracheobronchomalacia During Asfotase Alfa Treatment in Infants with Perinatal-onset Hypophosphatasia: A Case Series

Padidela Raja , Yates Rob , Benscoter Dan , McPhail Gary , Chan Elaine , Nichani Jaya , Mughal M Zulf , Saal Howard M

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

hrp0086p1-p119 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis

Prasad Rathi , Brewer Carole , Burren Christine

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

hrp0086p1-p120 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Practicalities of Bisphosphonate use in UK Paediatric Tertiary Centres

Price Victoria , Ramakrishnan Renuka , Burren Christine , Dharmaraj Poonam

Background: On reviewing practical aspects of intravenous bisphosphonate use in our tertiary Children’s Hospital, we noted disparity between departments who prescribed these drugs. This included issues pertinent to patient safety and hospital management, e.g. the need for overnight admission for the first infusion, blood tests and monitoring for adverse events (AEs). We therefore decided to survey the practices of other tertiary Paediatric Endocrinology Centres.<p cla...

hrp0086p1-p121 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Computer-assisted Diagnosis of Dyschondrosteosis Based on Skeletal X-ray Geometry

Filippo Gianpaolo De , Quintus Fabien , Hejblum Gilles , Bougneres Pierre

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...

hrp0086p1-p122 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bisphosphonates Therapy in Girls with Rett Syndrome and Bone Fragility

Lambert Anne-Sophie , Rothenbuhler Anya , Charles Perrine , Celestin Elisabeth , Bahi-Buisson Nadia , Linglart Agnes

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and though a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of pamidronate on fractures, bone mineral density (B...

hrp0086p1-p123 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Skeletal Manifestations in APECED

Laakso Saila , Toiviainen-Salo Sanna , Viljakainen Heli , Perheentupa Jaakko , Makitie Outi

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1) is an autosomal recessive disorder characterized by chronic candidiasis and autoimmune destruction of endocrine organs. Hypoparathyroidism (HP), adrenocortical failure (AF) and hypogonadism are the most common endocrinopathies, which together with their treatment may impact bone health. However, very little is known about the long-term skeletal health in patients with APECED.<p clas...

hrp0086p1-p124 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR

Molin Arnaud , Feillet Francois , Demers Nick , Wiedemann Arnaud , Brennan S , Kaufmann Martin , Jones Glenville , Kottler Marie Laure

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

hrp0086p1-p125 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Spectrum of the Genetic Defects in Hypophosphatemic Rickets in A Group of Turkish Children

Acar Sezer , Al-Rijjal Roua A. , Demir Korcan , Kattan Walaa E. , Catli Gonul , BinEssa Huda , Abaci Ayhan , Dundar Bumin , Zou Minjing , Kavukcu Salih , Meyer Brian , Bober Ece , Shi Yufei

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

hrp0086p1-p126 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Impact of Intercurrent Illness on Calcium Homeostasis and Hypoparathyroidism Management

Chinoy Amish , Skae Mars , Babiker Amir , Mughal Zulf , Padidela Raja

Background: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Objective/hypotheses/method/results: Case series Case 1: Two-month...

hrp0086p1-p127 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Transient Pseudohypoaldosteronism and Failiure to Thrive in A 5-Month-Old Infant

Soon Kim Hae , Lee Yoonsuk , Won Lee Jung , Jin Cho Su

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

hrp0086p1-p128 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life

Di Iorgi Natascia , Morsellino Vera , Gallizia Annalisa , Pistorio Angela , Cerone Federica , Tallone Ramona , Haupt Riccardo , Maghnie Mohamad

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and it’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

hrp0086p1-p129 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Trabecular Bone Score in Children from Mexico City: Preliminary Report

Angel Guagnelli Miguel , Gomez-Diaz Rita , Ambrosi Regina , Winzenrieth Renaud , Clark Patricia

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

hrp0086p1-p130 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Parpagnoli Maria , Paci Silvia , Masoni Fabrizio , Chiarelli Francesco , Verrotti Alberto , Guarducci Silvia , Giglio Sabrina , Romano Silvia , de Martino Maurizio

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

hrp0086p1-p131 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali Saygin , Arman Ahmet , Atay Zeynep , Bereket Abdullah , Bas Serpil , Haliloglu Belma , Guran Tulay , Gormez Zeliha , Demirci Huseyin , Akarsu Nurten , Turan Serap

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

hrp0086p1-p132 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Spinal and Forearm Bone Mineralization in Adolescents with Klinefelter Syndrome

De Schepper Jean , Louis Olivia , Vanbesien Jesse , Verheyden Stefanie , De Wolf Rik , Anckaert Ellen , Gies Inge

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

hrp0086p1-p133 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Treatment with Zoledronic Acid in Children with Duchenne Muscular Dystrophy

Viseras Irene Fernandez , Konstantoulaki Ele , Jungbluth Heinz , Wraige Elizabeth , Gowda Vasantha , Hulse Tony , Cheung Moira

Background: Paediatric Osteoporosis can be a devastating complication of Duchenne muscular dystrophy (DMD). Treatment with intravenous bisphosphonates such as pamidronate is currently the first treatment choice for paediatric osteoporosis of different etiologies.Objective and hypotheses: The aims of our study were i) to identify the proportion of boys with DMD with osteoporosis in our service and ii) to evaluate the side-effect profile of those treated w...

hrp0086p1-p134 | Bone &amp; Mineral Metabolism P1 | ESPE2016

A RCT Comparing the Effect of Three Different Vitamin D Supplementation Regimens on Se 25 OH Vit D in Asymptomatic Vit D Deficient Children

Simon Anna , Pragathesh P , Priyambada Leena

Background: Vitamin D plays a significant role in musculoskeletal health and various extraskeletal functions making the prevention and treatment of this vitamin (now considered as a hormone) of utmost importance. Literature on requirement/supplementation of vitamin D in asymptomatic children is scarce and this study was an attempt to see the effect of three different doses of cholecalciferol supplementation regimens in children with asymptomatic vitamin D deficiency.<p cla...

hrp0086p1-p135 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Low Bone Mineral Density in Adolescents with Leukemia After Hematopoietic Stem Cell Transplantation

Kyoung Cho Won , Bae Ahn Moon , Hee Kim Shin , Soon Cho Kyoung , Hyun Park So , Ho Jung Min , Suh Byung-Kyu

Background: Hematopoietic stem cell transplantation (HSCT) has improved the prognosis of children with malignant hematologic disease. However, it has had significant adverse effects on the endocrine system, including bone health. Limited studies are available to assess osteoporosis in survivors of adolescents after HSCT.Objective and hypotheses: We investigate the bone mineral density (BMD) and endocrinopathy/treatment factors associated with low BMD in ...

hrp0086p1-p136 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene

Dusatkova Lenka , Potuznikova Kristyna , Zemkova Daniela , Marik Ivo , Rozenkova Klara , Lebl Jan , Pruhova Stepanka , Sumnik Zdenek

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

hrp0086p1-p137 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Treatment Experience and Long-Term Follow-Up Data in Two Severe Neonatal Hyperparathyroidism Cases

Savas-Erdeve Senay , Sagsak Elif , Keskin Meliksah , Magdelaine Corinne , Lienhardt-Roussie Anne , Kurnaz Erdal , Cetinkaya Semra , Aycan Zehra

Background: Inactivating mutations in the calcium sensing receptor (CASR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT).Objective and hypotheses: We report two cases with NSHPT together with their treatment and long-term follow-up.Method: Two cases were referred with severe hypercalcemia in the neonatal period....

hrp0086p1-p138 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Biochemical Parameters Associated with Serum Intact FGF23 Levels in Patients with X-Linked Hypophosphatemic Rickets

Kubota Takuo , Yamamoto Keiko , Miyata Kei , Takeyari Shinji , Yamamoto Kenichi , Nakayama Hirofumi , Fujiwara Makoto , Kitaoka Taichi , Takakuwa Satoshi , Ozono Keiichi

Background: Fibroblast growth factor 23 (FGF23) decreases renal phosphate reabsorption and serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. X-linked hypophosphatemic rickets (XLH) is caused by mutations in the PHEX gene and accompanied by decreased serum inorganic phosphate (IP) and elevated serum FGF23 levels. Patients with XLH are generally treated with oral active vitamin D and phosphate, but some previous reports indicated that serum FGF23 levels increased with ...

hrp0086p1-p139 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Dental Effects of Intravenous Bisphosphonate When Administered in Early Infancy

Zacharin Margaret

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

hrp0086p1-p140 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bone Mass and Vitamin D Status in Children and Adolescents with Generalized Epidermolysis Bullosa

Claudio Castro Luiz , Nobrega Yanna , Gandolfi Lenora , Pratesi Riccardo

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

hrp0086p1-p141 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Off-Label Use of the Aromatase Inhibitor Letrozole in Pubertal Boys to Improve Final Height: Laboratory, Auxological and Bone Age Data

Schmidt Heinrich , Weissenbacher Claudia , Bechtold-Dalla Pozza Susanne , Roeb Julia , Sydlik Carmen

Background and aims: The aromatase inhibitor letrozole is used to improve final height in boys with predicted short stature by delaying bone age (BA) maturation due to suppression of estradiol levels. There are few data regarding its effects, especially when used as single medication.Methods: Ten pubertal boys with predicted low final height treated with letrozole 2.5 mg/d p.o. (no other medication) for up to 24 months were analysed for auxological, labo...

hrp0086p1-p142 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Effect of Bisphosphonates and Denosumab on Trabecular Bone: Results of a Pilot Study in Children with Osteogenesis Imperfecta

Rehberg Mirko , Semler Oliver , Hoyer-Kuhn Heike , Schonau Eckhard , Winzenrieth Renaud

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder due to mutations related to collagen type 1. OI presents itself with low bone mass, resulting in high bone fragility. Bone mass is relevant for determination of the severity of OI. Although bisphosphonate treatment is able to increase areal bone mineral density (aBMD) measured by DXA, there is no correlation to fracture rates.Objective and hypotheses: The aim of this stud...

hrp0086p1-p143 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Impact of Anti-Tumour Necrosis Factor Therapy on the Insulin Like Growth Factor Axis and Bone Development in Childhood Crohn’s Disease

Altowati M. , Malik S. , Shepherd S. , McMillan M. , McGrogan P. , Ahmed S.F. , Wong S.C.

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

hrp0086p1-p144 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Effects of Phylloquinone and Magnesium on ATDC5 Prechondrocytes

Raimann Adalbert , Javanmardi Alireza , Sagmeister Susanne , Ertl Diana-Alexandra , Claudia Hochsmann , Monika Egerbacher , Gabriele Haeusler

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

hrp0086p1-p145 | Bone &amp; Mineral Metabolism P1 | ESPE2016

To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis

Mohamed Zainab , Sachdev Pooja , Zamir Imran , Benson Joanna , Denvir Louise , Mughal M Zulf , Randell Tabitha

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...