Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

hrp0094p1-51 | Bone B | ESPE2021

A Global Natural History Study (NHS) of Fibrodysplasia Ossificans Progressiva (FOP): Normal Long Bone Growth and Abnormalities in Younger Patients over 36 Months

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , Cunto Carmen De , Hsiao Edward C. , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

hrp0094p1-52 | Bone B | ESPE2021

Impact of Vertebral Fracture on Auxological Profile and Insulin-like Growth Factors of Children after Acute Lymphoblastic Leukemia Treatment

Bae Ahn Moon , Kim Sung Eun , Lee Na Yeong , Ki Kim Seul , Hee Kim Shin , Kyoung Cho Won , Soon Cho Kyoung , Ho Jung Min , Suh Byung-Kyu ,

Purpose: To investigate the overall prevalence of vertebral fractures (VF) following childhood acute lymphoblastic leukemia (ALL) treatment and examine the association of VF with growth trajectory and insulin-like growth factorsMethods: Children (n = 172; 59.3 % male) diagnosed with ALL at age between 2 and 18 years were assessed for VF by screening the lateral thoracolumbar spine radiographs (Genant’s semi-quantitative met...

hrp0094p1-53 | Bone B | ESPE2021

Growth and Puberty in Patients with Osteogenesis Imperfecta

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

hrp0094p1-54 | Bone B | ESPE2021

Decreased bone mineral density in children receiving long-term anticoagulation is associated with pubertal development

Raimann Adalbert , Patsch Janina , Weber Michael , Haufler Florentina , Pees Christiane , Albinni Sulaima , Male Christoph , Haeusler Gabriele , Thom Katharina ,

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

hrp0094p1-55 | Bone B | ESPE2021

Premature epiphyseal fusion induced by a retinoic acid agonist in a young girl with fibrodysplasia ossificans progressiva

Hallgrimsdottir Sigrun , Nilsson Ola ,

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

hrp0094p1-56 | Bone B | ESPE2021

Chondrocyte regulating and other growth plate genes are invaluable growth regulators: a study on children with short stature from 55 consanguineous families

Anne Amaratunga Shenali , Tayeb Tara Hussein , Dusatkova Petra , Elbova Lenka , Pruhova Stepanka , Lebl Jan ,

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

hrp0094p1-57 | Bone B | ESPE2021

High rate of positive genetic findings in children born small for gestational age with persistent short stature (SGA-SS): Growth plate genes as key regulators of intrauterine growth

Toni Ledjona , Plachy Lukas , Dusatkova Petra , Anne Amaratunga Shenali , Kolouskova Stanislava , Obermannova Barbora , Snajderova Marta , Sumnik Zdenek , Pruhova Stepanka , Lebl Jan ,

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

hrp0094p1-58 | Bone B | ESPE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , Wittenberghe Laetitia van , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe ,

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

hrp0094p1-59 | Bone B | ESPE2021

Cartilage -specific knockout of SIRT1 significantly reduces bone quality and catch-up growth efficiency

Shtaif Biana , Bar-Maisels Meytal , Gabet Yankel , Hiram-Bab Sahar , Yackobovitch-Gavan Michal , Phillip Moshe , Gat-Yablonski Galia ,

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

hrp0094p1-60 | Bone B | ESPE2021

Mosaic PHEX variants are important causes of X-linked hypophosphataemic rickets.

Prentice Philippa , Owens Martina , Brain Caroline , Allgrove Jeremy , Gevers Evelien ,

Introduction: X-linked hypophosphataemic rickets (XLH), due to mutations in the PHEX (Phosphate-regulating Endopeptidase homolog; X-linked) gene, causes reduced bone and dentin mineralisation and decreased renal phosphate reabsorption. Mosaic PHEX mutations are reported only in a few case reports.We report three male cases, with mosaic pathogenic PHEX variants, showing importance of considering this in the diagnosis of XLH.Case 1 pre...