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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

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Bone, Growth Plate & Mineral Metabolism 2

hrp0089rfc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

Mantovani Giovanna , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFillipo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca M , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Lecumberri Beatriz , Levine Michael A , Makiti Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Muray Philip , Pereda Arrate , Pignolo Roberto , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M. , Silve Caroline , Turan Serap , Woods Philip , Zillikens M. Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

hrp0089rfc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Nationwide Hypophosphatemic Rickets Study

Siklar Zeynep , Turan Serap , Bereket Abdullah , Abacı Ayhan , Baş Firdevs , Demir Korcan , Guran Tulay , Akberzade Azad , Bober Ece , Ozbek Mehmet Nuri , Kara Cengiz , Poyrazoğlu Şukran , Aydın Murat , kardelen Aslı , tarım Omer , Eren Erdal , Hatipoğlu Nihal , Buyukinan Muammer , Akyurek Nesibe , Cetinkaya Semra , Bayramoğlu Elvan , Eklioğlu Beray Selver , Ucakturk Ahmet , Abalı Saygın , Gokşen Damla , Kor Yılmaz , Unal Edip , Esen Ihsan , Yıldırım Ruken , Akın Onur , Cay Atilla , Dilek Emine , Kırel Birgul , Anık Ahmet , Catlı Gonul , Berberoğlu Merih

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

hrp0089rfc11.3 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Increased Levels of Bone Formation and Resorption Markers in Patients with Hypophosphatemic Rickets

Hansen Stinus , Shanbhogue Vikram Vinod , Jorgensen Niklas Rye , 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. Osteoid accumulates due to the reduced mineralization rate. Based on previous histomorphometric bone biopsy studies it the impression that XLH is a low bone turnover disease. Very little is known about the level of bone markers in XLH and the effects of conventional medical treatment with oral phos...

hrp0089rfc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry

Cuk Mario , Lian Jayson , Kahlfuss Sascha , Kozhaya Lina , Vaeth Martin , Rieux-Laucat Frederic , Picard Capucine , Benson Melina J , Jakovcevic Antonia , Bilic Karmen , Martinac Iva , Stathopulos Peter , Kacskovics Imre , Vraetz Thomas , Speckmann Carsten , Ehl Stephan , Issekutz Thomas , Unutmaz Derya , Feske Stefan

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...

hrp0089rfc11.5 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane , McComb Christie , Foster John , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

hrp0089rfc11.6 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Reference Values of Automated Bone Age and Bone Health Index for Mexican Children and Adolescents

Lora America Liliana Miranda , Espindola Montserrat Espinosa , Gonzalez Desiree Lopez , Loyo Mariana Sanchez-Curiel , Suarez Pilar Dies , Klunder Miguel Klunder

Background: BoneXpert is a software for automated measurement of bone age (BA) and radiogrammetry (bone health index). The precision error of the software for BA measure is smaller than the human rating error and the accuracy relative to the human routine ratings is 0.80 years. Differences in skeletal maturation between ethnicities have been reported, so it is important to have specific references for the own population.Objective: To present the automate...