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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

Poster Presentations

Bone, Growth Plate & Mineral Metabolism P2

hrp0089p2-p036 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Length Estimation Based on Clinical and Anthropometric Measures in Newborns

Beauregard-Paz Martha , Miranda-Lora America L. , Cruz-Hernandez Ana M. , Rivas-Rivas Rodolfo , Klunder-Klunder Miguel

Background and Aims: The hospitalized neonates requires specialized and multidisciplinary approach and the nutritional follow-up is an essential part of the care. The anthropometry is required to evaluate the nutritional status of patients over time. The main measurements to determine the nutritional status in infants are weight and length. These measures are used to evaluate indexes as length for age, weight for length and body mass index. According to the above, the measurem...

hrp0089p2-p037 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Vitamin D Deficient (Nutritional) Rickets Presenting in Infancy

Prematilake Dilusha , Hashim Raihana , Kollurage Udeni , Atapattu Navoda

Background: Nutritional rickets is a disorder of defective chondrocyte differentiation and mineralization of the growth plate and osteoid due to vitamin D deficiency with or without low calcium intake in growing children. Maternal Vitamin D deficiency and exclusive breastfeeding without supplementation are the most frequent causes of rickets in the infancy. Vitamin D deficiency is still a problem in Sri Lanka in spite of sun shine throughout the year. We present a case series ...

hrp0089p2-p038 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

The Effect of Vitamin D Receptor Polymorphism on Bone Mineral Density in Egyptian Patients with Beta Thalassemia Major

Aly Abbassy Hadeer , Abdel Haleem Abo Elwafa Reham , Magdy Omar Omneya , Emadeldin Nassar Aliaa

Background: Beta thalassemia major (BTM) is considered a major health problem. Despite optimal conventional treatment, bone disease comprising of low bone mineral density (BMD), bone pain, and fractures is still a characteristic feature of thalassemia. The etiology of bone disease in thalassemia is multifactorial. vitamin D receptor (VDR) mediates the action of 1,25(OH)2D, The VDR genetic variations may be responsible for modifying the activity of VDR protein.<p class="abs...

hrp0089p2-p039 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Vitamin D in Adolescents: A Comprehensive Review of Guidelines and Recommendations

Patseadou Magdalini , Haller Dagmar

Introduction: Vitamin D plays a key role in bone health of adolescents. Meanwhile, its potential extra-skeletal health benefits have resulted in the association of vitamin D deficiency with a wide range of acute and chronic diseases. As a consequence, hypovitaminosis D in adolescence is considered to have serious adverse effects and is highlighted as a global public health concern. Practical guidelines help clinicians make their preventive and therapeutic choices and improve c...

hrp0089p2-p040 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

X-linked Hypophosphatemia Registry – An International Prospective Patient Registry

Padidela Raja , Nilsson Ola , Linglart Agnes , Makitie Outi , Beck-Nielsen Signe , Ariceta Gema , Schnabel Dirk , Brandi Maria Luisa , Boot Annemieke , Jandhyala Ravi , Moeller Gerd , Levtchenko Elena , Mughal Zulf

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...

hrp0089p2-p041 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Clinical and Biological Parameters Associated to the Severity of X-linked Hypophosphatemia in Children

Salcion-Picaud A , Rothenbuhler A , Etcheto A , Molto A , Briot K , Linglart A

Introduction: X-linked hypophosphatemia or XLH is a rare genetic disease, often revealed in children by rickets, growth failure, delayed walking, and leg bowing. Clinically the severity is reflected by leg deformities. The aim of our study was to assess the clinical and biochemical parameters correlated to the severity of XLH at the end of growth.Materiel and methods: Monocentric retrospective study of patients treated with phosphate supplements and vita...

hrp0089p2-p042 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Fibroblast Growth Factor (FGF) 23: An Unusual Cause of Severe Osteoporosis in a Patient with Chronic Liver Disease

Ng Nicholas Beng Hui , Lee Yung Seng , Sng Andrew Anjian , Aw Marion Margaret , Loke Kah Yin

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

hrp0089p2-p043 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

hrp0089p2-p044 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0089p2-p045 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0089p2-p046 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Novel SLC34A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia

Kang Seokjin , Kim Heung Sik

SLC34A1 encodes renal sodium-phosphate cotransporter 2A. It has been identified as being a part of the etiology of idiopathic infantile hypercalcemia. We report a case of a 1-month old girl, initially hospitalized due to perinatal detection of nephrocalcinosis. Blood tests showed hypercalcemia, hypophosphatemia, hypercalciuria and increased 1,25-(OH)2D3. Renal ultrasound revealed medullary nephrocalcinosis. An abnormality in vitamin-D metabolism was suspected and genetic testi...

hrp0089p2-p047 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia

Lee Gi-Min , Moon Jung-Eun , Kim Hyeon-A , Lee Su-Jeong , Ko Cheol-Woo

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

hrp0089p2-p048 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Infantile Arterial Calcification and Subsequent Hypophosphatemia due to ENPP1 Mutation – A Case Followed through to Adulthood

Nour Munier , Inman Mark , Arnason Terra

Introduction: Infantile Arterial Calcification (IAC) is a rare and frequently lethal condition. Children who survive the infantile period may develop fibroblast growth factor 23 (FGF23) mediated hypophosphatemia and rickets when IAC is due to mutations in the ENPP1 gene.Case: We present a female patient born to a family whose previous child died at birth with extensive vascular calcifications. Akin to the first sibling, our case presented with e...

hrp0089p2-p049 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Pediatric Quality of Life Inventory in Children with Osteogenesis Imperfect in Dr Soetomo Hospital Surabaya

Rochmah Nur , Faizi Muhammad

Osteogenesis imperfecta is a heritable systemic disorder of bone and connective tissue. Acceptance of children and their family is associated with medical, growth, developmental conflicts, physical, social and emotional. The study about impact of OI in children’s quality of life is still limited. Aims is to analyze PedsQL score in OI children in Dr. Soetomo Hospital, Surabaya.Methode: This study is a cross sectional study held in pediatric endocrine...

hrp0089p2-p050 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Osteoporosis-pseudoglioma Syndrome (OPPG): Improvement of Osteoporosis on Biphosphonate Therapy

Karakilic Ozturan Esin , Altunoglu Umut , Derya Kardelen Asli , Yavas Abali Zehra , Avci Sahin , Kayserili Karabey Hulya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

hrp0089p2-p051 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Bone Marrow Adiposity and IGF System in Obese Children and Adolescents

Darrigo Emiliana , Sader Soraya , Siena Thais , Nogueira-Barbosa Marcelo , Elias Jr. Jorge , Custodio Rodrigo , Ferraz Ivan , Liberatore Jr. Raphael , Del Ciampo Luiz , Jose Albuquerque de Paula Francisco , Martinelli Jr Carlos

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

hrp0089p2-p052 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Evaluation of Bone Mineral Density in a Cohort of Children with Growth Hormone Deficiency

Cenciarelli Valentina , Bruzzi Patrizia , Predieri Barbara , Cerbone Caterina , Madeo Simona , Leo Francesco

Background: Growth Hormone (GH) plays an important role in linear growth and in bone turnover during childhood. GH deficiency (GHD) may cause secondary osteoporosis associated to low bone mineral density (BMD), impairment of bone turnover and increased fracture rate. The effects of treatment with recombinant human Growth Hormone (rhGH) on bone metabolism are controversial. We aimed to assess BMD using dual energy x-ray absorptiometry (DEXA) among a cohort of children with GHD ...

hrp0089p2-p053 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Follow-up on Bone Health in Children with Acute Lymphoblastic Leukemia (ALL)

Brenzoni Luciana , Cassinelli Hamilton , Bergada Ignacio

Background: Acute lymphoblastic leukemia (ALL) is the most common paediatric cancer. Skeletal morbidity has been recognized as a complication of ALL and its treatment, occurring at diagnosis, during chemotherapy and/or years later.Aim: To describe the adversely effect on bone health, in terms of vertebral fractures (VF) and bone mineral density (BMD), in the follow-up of children with ALL.Design, patients and methods: Descriptive a...

hrp0089p2-p054 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Effect of Pubertal Inductionn Bone Mass Accrual, in Adolescent Boys with Duchenne Muscular Dystrophy

Zacharin Margaret , Lee Samantha , Taylor Miller Tashunka , Simm Peter , Munns Craig

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...

hrp0089p2-p055 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Oxandrolone Improves the Linear Growth and Osteoporosis in Teenage Bays with Osteogenesis Imperfecta

Salehpour Shadab , Setavand Somayeh , Shiari Reza , Reza Yassaee Vahid , Vafadar Mehdi , Tavakoli Saeed

Background: Severe osteogenesis imperfecta (OI) is a disorder characterized by osteoporosis, frequent fractures, progressive deformity and short stature. We determine the effect of oxandrolone on predicted adult height (PAH), fracture incidence and bone mineral density in teenage boys with OI.Methods: In a prospective, double-blind, randomized, placebo-controlled clinical trial, 31 boys (12.1–16.6 years old) who were genetically proved to have OI wi...

hrp0089p2-p056 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

First Reported Cases of a Novel Variant of GNAS 1 Gene

Fafoula Olga , Panagiotakou Argyro , Grivas Grigorios , Fryssira Eleni , Kosteria Ioanna , Korovessi Paraskevi , Kostaridou Stavroula

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

hrp0089p2-p057 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

An Unusual Cause of Short Stature

Betul Kaygusuz Sare , Atay Zeynep , Kirkgoz Tarik , Guran Tulay , Bereket Abdullah , Turan Serap

Objectives: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions with immune dysfunction and neurologic involvement which is caused by mutations in ACP5 gene encoding tartrate resistant acid phosphatase 5. Here, we report a three year old girl presented with primary hypothyroidism, developmental delay and thrombocytopenia and diagnosed as SPENCDI.<p class="abstext"...

hrp0089p2-p058 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Validation of an Automated Method (BoneXpert) for the Determination of Bone Age in Paediatric Endocrinology – A Single Centre Experience

Calder Alistair , Dastamani Antonia , Spoudeas Helen , Dattani Mehul

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

hrp0089p2-p059 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

Bideci Aysun , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...