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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 1

Bone, Growth Plate and Mineral Metabolism (1)

hrp0092p1-168 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype-Phenotype Characteristics in Four Families of Type II Collagenopathy in Our Hospital

Yamamoto Kenichi , Kubota Takuo , Takeyari Shinji , Nakano Yukako , Nakayama Hirofumi , Fujiwara Makoto , Ohata Yasuhisa , Kitaoka Taichi , Miyoshi Yoko , Ozono Keiichi

Type II collagenopathy is a generic name of the skeletal dysplasia caused by COL2A1 gene, such as achondrogenesis type II, spondyloepiphyseal dysplasia (SEDC), spondyloepimetaphyseal dysplasia (SEMD). Since this is a rare disease, genotype-phenotype characteristics is still unclear. Here, we describe the genotype-phenotype characteristics of four families of type II collagenopathy in our hospital. Family 1: the proband was 2-year-old girl. She showed severe short stat...

hrp0092p1-169 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Hypercalcemia as a Post Stem Cell Transplantation Complication in Children with Osteopetrosis - A Single Centre Experience

Paul Praveen George , N.A Fouzia , Korula Sophy , Mathai Sarah , George Biju , Simon Anna

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

hrp0092p1-170 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Efficacy and Safety of Denosumab Treatment in a Boy with Cherubism

Kawamura Haruka , Watanabe Satoshi , I Takashi , Asahina Izumi , Moriuchi Hiroyuki , Dateki Sumito

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

hrp0092p1-172 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Is Serum Alkaline Phosphatase Useful in Assessing Rickets Severity on Radiographs in Children with X-Linked Hypophosphataemia on Conventional Therapy?

Uday Suma , Shaw Nick , Mughal Zulf , Randell Tabitha , Högler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...

hrp0092p1-173 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Cutoff Value for 25 Hydroxy-Vitamin D Which Leading to sYmptomatic Vitamin D Deficiency in Children is 15 ng/mL in a Chemiluminescent Immunoassay

Ogiwara Yasuko , Hachiya Rumi , Shibata Nao , Ishii Akira , Higuchi Shinji , Nagasaki Keisuke , Kamasaki Hotaka , Yorifuji Toru , Hasegawa Yukihiro

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...

hrp0092p1-174 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

The Optimal Dosage of Vitamin D Supplement for Vitamin D deficiency in Korean Children and Adolescents

Yang Seung , Hee Yi Kyung , Kim Eun Young , Hwang Il Tae

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...

hrp0092p1-175 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees

Kaygusuz Sare Betul , Arman Ahmet , Abali Saygin , Ata Pinar , Kirkgoz Tarik , Eltan Mehmet , Abali Zehra Yavas , Helvacioglu Didem , Tosun Busra Gurpinar , Menevse Tuba Seven , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta (OI) is characterized by low bone mass and bone fragility mainly due to COL1A1/COL1A2 gene defects. However, >17 genes have been identified in the pathogenesis of OI. Here, we aim to characterize genotypic spectrum of our OI cohort.Methods: Forty-nine OI patients (28 males) from 38 different families (13 consanguineous/9 multiplex) were screened with the next-gene...

hrp0092p1-176 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA

Kaygusuz Sare Betul , Ata Pinar , Kirkgoz Tarik , Abali Zehra Yavas , Eltan Mehmet , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Arman Ahmet , Bereket Abdullah , Turan Serap

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...