Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Poster Category 1

Bone, Growth Plate and Mineral Metabolism

hrp0097p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Low bone mineral density in children with Cerebral Palsy and its risk factors: finding a way to prevent secondary osteoporosis

Lindblad Pedersen Marianne , Mol Debes Nanette , Engel Høi-Hansen Christina , Johannesen Jesper

Introduction: Children with cerebral palsy (CP) has an increased risk of bone fragility, low areal bone mineral density (aBMD) and low trauma fractures leading to increased pain experience, decreased mobility and lower quality of life.Purpose: The aim of this study was to determine the prevalence of low BMD among children with cerebral palsy in Denmark across the spectrum of gross motor function scale (GMFCS) of I-V and ...

hrp0097p1-17 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Dual-X-ray-Absorptiometry (DXA) bone parameters in children with Achondroplasia

Angelelli Alessia , Fava Daniela , Elsa Maria Allegri Anna , Casalini Emilio , Napoli Flavia , Ridella Francesca , Tedesco Caterina , Maghnie Mohamad , Di Iorgi Natascia

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

hrp0097p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density in children and adolescents with Cystic Fibrosis: a follow-up study.

Tamer Gizem , G.M. Arets Hubertus , K. van der Ent Cornelis , M. van Santen Hanneke , J. van der Kamp Hetty

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

hrp0097p1-19 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density development in children with chronic non-bacterial osteomyelitis treated with zoledronate

Soucek Ondrej , Cebecauerova Dita , Malcova Hana , Sumnik Zdenek

Introduction: Chronic non-bacterial osteomyelitis (CNO) is a sterile inflammatory disease of the skeleton characterized by local pain and swelling. If first line treatment (non-steroidal anti-inflammatory drugs) fails, bisphosphonates are recommended. There are no randomized controlled studies so far that would clarify the zoledronate efficiency, and also no study systematically exploring the effect on bone mineral density (BMD)....

hrp0097p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Non-Osteogenesis Imperfecta Primary Osteoporosis in Children: Clinical and Genetic Features

Gurpinar Tosun Busra , Betul Kaygusuz Sare , Alavanda Ceren , Kahveci Ahmet , Kurt Ilknur , Kelestemur Elif , Yavas Abali Zehra , Helvacioglu Didem , Arman Ahmet , Guran Tulay , Bereket Abdullah , Ata Pınar , Turan Serap

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

hrp0097p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Serum osteocalcin, sclerostin and lipocalin-2 levels in adolescent boys with obesity over 12 week sprint interval training

Salus Marit , Tillmann Vallo , Remmel Liina , Unt Eve , Mäestu Evelin , Parm Ülle , Mägi Agnes , Tali Maie , Jürimäe Jaak

Aim: to examine the effects of supervised cycling sprint interval training (SIT) on serum osteocalcin, lipocalin-2 and sclerostin levels, and bone mineral characteristics among obese adolescent boys.Methods and subjects: untrained adolescent obese boys (n=14) aged 13.4 ± 0.3 were assigned to either a 12-week SIT group (3 sessions/week) or a non-exercising control group (n=14) who continued with their...

hrp0097p1-22 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Fibroblast growth factor receptor-3 (FGFR3) mutation frequency in 17 Albanian children who were clinically to have Achondro – Hypochondroiplasia

Gjikopulli Agim , Cullufi Paskal , Kollcaku Laurant , Tomori Sonila , Tako Aferdita

Keywords: Achondroplasia, Hypochondroplasia, Dwarfism, Fibroblast growth factor receptor-3.Introduction: Achondroplasia (ACH) and hypochondroplasia (HCH) are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases characterized by a rhizomelic shortening of the limbs, genu varum, trident hands, large head with frontal bossing and hypoplasia of the mid-face. Both ACH and HCH are caused by mi...

hrp0097p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Accelerated linear growth in children with selective tyrosine kinase inhibitior treatment: Hints to a growth factor and sex steroid independent growth promotion mechanism

Raimann Adalbert , Stepien Natalia , Gojo Johannes , Hartmann Gabriele

Background: Postnatal linear growth is characterized by a steady decline of growth velocity in healthy individuals, with the exception of sex-steroid induced pubertal growth. Pharmacologic interventions in growth disorders are limited to systemic application of growth factors such as growth hormone, and CNP analogues in conditions with FGFR3 overactivation. Tyrosine kinase receptor inhibitors (TKI) represent a heterogenous group of drugs, mostly used for oncol...

hrp0097p1-24 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Cortical hyperostosis in an infant on prolonged prostaglandin infusion: a case report

Abdulkayoum Anas , Alyafei Fawzia , Almarri Noora , Alaaraj Nada , Hamed Noor , Soliman Ashraf

Introduction: Prostaglandin E1 (PGE1) is a drug used for ductal patency in cyanotic congenital heart disease, We are reporting an infant with cortical hyperostosis secondary to prolonged use of PGE1, with typical and extensive radiological findings.Case Report: A 2-month-old girl, born at 37 weeks with APGAR scores of 9 & 10 at 1 & 5 min, and birth weight = 2.9 kg. She failed Critical Congenital Heart Defects Scr...

hrp0097p1-25 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A case of hypophosphatasia accompanying neurofibromatosis type 1

Tepe Derya , Gören Refika , Toksoy Adıgüzel Kezban , Kocaay Pınar

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

hrp0097p1-26 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bone mineral density of children with cow milk allergy

Magdy Omar Omneya , Massoud Mohamed , Ibrahim Gehad

Objectives and Study: To compare the bone mineral density (BMD) between children with cow milk protein allergy (CMPA) and those who are healthy as control subjectsMethods: This study was carried out on forty children with cow milk protein allergy attending the Alexandria University Children's Hospital nutrition clinic and compared to forty apparently healthy children of matched age and sex as a control group. Anthro...

hrp0097p1-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Treatment with Letrozole was safe and effective in the case of congenital adrenal hyperplasia.

Abedini Nariman , Ten Svetlana

Introduction: Patients with congenital adrenal hyperplasia (CAH) develop advanced bone age (BA) frequently. Treatment with aromatase inhibitors can slow down bone maturation and improve final height in cases of CAH. However, safety is not clear at this point.Case Presentation N 1 15.5 yrs. old boy was diagnosed with congenital adrenal hyperplasia, salt-wasting type at 4.9 years of age. His genetic analysis revealed that ...

hrp0097p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Effects of romosozumab on bone ultrastructure and density in a patient with primary osteoporosis caused by a novel heterozygous WNT1 mutation

Montero-Lopez Rodrigo , Blaschitz Alexandra , Tischlinger Katharina , Wimleitner Marlene , Hörtenhuber Thomas , Klinger Markus , Cejka Daniel , Högler Wolfgang

Background: Genetic defects in the Wnt signaling pathway lead to early-onset osteoporosis (EOOP). Romosozumab is a monoclonal antibody against sclerostin, an inhibitor of the Wnt/ß-catenin pathway. Romosozumab has shown great efficacy in adult osteoporosis, however its effect in patients with Wnt-related EOOP is unknown. In monoallelic loss-of-function WNT1 mutations, romosozumab could potentially stimulate the defective Wnt signaling pathway an...

hrp0097p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis

Kilci Fatih , Jones Jeremy , Gürpınar Gözde , Koçyiğit Esra , Çakır Özgür , Ceylaner Serdar , Alanay Yasemin , Mine Çizmecioğlu-Jones Filiz

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...

hrp0097p1-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of TRAPPC2 gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report

Yaşar Deniz , Güleray Lafcı Naz , Karacan Küçükali Gülin , Araslı Yılmaz Aslıhan , Özkaya Dönmez Beyhan , Tahir Yazar Burak , Uçan Berna , Okur İclal , Sarıkaya Özdemir Behiye , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...

hrp0097p1-213 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Age at diagnosis of XLH amongst children with and without a family history: Findings from the International XLH Registry

Uday Suma , Sandilands Kerry , Williams Angela , Mughal M.Zulf

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...

hrp0097p1-214 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Vitamin-D Dependent Rickets: a case series with presentation, clinical features and long term follow up

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Vitamin D-dependent rickets (VDDR) describes a group of genetic disorders characterized by early-onset rickets that develops due to insufficient concentration of active forms of vitamin-D or unresponsiveness to active vitamin D. The aim of this study was to share the clinical features and long-term outcome of cases followed up in our center with the diagnosis of either VDDR-Type-1 and VDDR-Type-2.Method: Pr...

hrp0097p1-215 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical and genetic characteristics of primary hypoparathyroidism in children:two-center experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Huang Ke , Dong Guanping , Fu Junfen , Wei Haiyan , Wu Wei

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

hrp0097p1-216 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Genetic Evaluation in a cohort of children affect by idiopatic short stature.

Bianco Carlo , Aquisti Giulia , Montafia Ilaria , Pagliero Federica , Bellone Simonetta , Prodam Flavia , Rabbone Ivana , Partenope Cristina , Petri Antonella

Short stature is a common clinical presentation in children. New genetics approache such as “Next Generation Sequencing” have recently reported many monogenic defects in genes related to the growth plate cartilage and in GH-IGF-1 axis. The purpose of this study was to analyze a cohort of 64 patients (31 females and 33 males) affected by ISS. The patiens have been subjected to genetic investigations by performing an NGS panel of genes involved in growth, the evaluat...

hrp0097p1-218 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Osteoporosis pseudoglioma syndrome: a case report of a child with osteoporosis and impaired vision

Iordanidou Aikaterini , Toulia Ilektra , Adamidou Fotini , Kosta Konstantina , Papadopoulou Anna , Roilides Emmanouel , Papagianni Maria

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

hrp0097p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An investigation of vitamin D deficiency in children with new onset type 1 diabetes mellitus from Henan Province, China

Chen Qiong , Yuan Shuxian , Chen Yongxing , Li Tao , Yang Wei , Huang Ai , Liu Fang , Cao Bingyan , Wei Haiyan

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...

hrp0097p1-220 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of Bone mineral density and Nutritional status in children with Spastic Cerebral Palsy. Implications for Fracture risk and Quality of Life.

Muzna Arif Dr , Mohammad Raza Dr , Fozia Memon Dr , Shahnaz Ibrahim Dr , Khadija Nuzhat Humayun Dr

Introduction Up to 75% of Cerebral palsy(CP) children are of spastic diplegic & quadriplegic types with severe malnutrition found in 35% of them which is multifactorial. Motor impairment is strongly corelated with Gross Motor Function Classification(GMFCS) level 3 and above, malnutrition, and low bone mineral density(BMD) assessed via dual energy x-ray absorptiometry(DXA) scan. These children have low age adjusted BMD z scores <-2SD subsequently increas...

hrp0097p1-221 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Celiac disease in a patient with Sclerosteosis: an association or just a co-incidence?

Abdelmeguid Yasmine , Riad Salma , Mokhtar Nada , Taha El-Hendawy Mahmoud

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...

hrp0097p1-222 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Height evaluation in a group of patients with Prader Willi syndrome after 3 years of treatment with growth hormone

Lara Emma , Castel Molineli Ana , Pintado Mónica , Luis Ruibal Jose

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...

hrp0097p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A rare cause of hypoparathyroidism: Barakat syndrome

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

hrp0097p1-224 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Metaphyseal Dysplasia, Spahr Type: 12-Year Follow-up

Zülal Ozdemir Uslu , Nursel Muratoglu Sahin , Agah Akin , Elif Tuğçe Tunca Kucukali , Semra Cetinkaya

Introduction: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...

hrp0097p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Acrodysostosis: a case report

Pitea Marco , Crocè Ludovica , Sala Elisa , Lanzafame Ruggero , Mora Stefano

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...

hrp0097p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment and Cinacalcet Therapy

Ahmad Noman , Aziz Sundus , AlEsaye Nabil

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...

hrp0097p1-227 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Parathyroid Adenoma in a 12-year- old Child: A Case with Unusual Presentation

Arsadh Muhammadh , Mahaliyana Dileepa , Manathunga Rasitha , Kahandawa Shyaminda , Suntharesan Jananie

Introduction: Acute pancreatitis (AP) is rarely seen in children and is typically not associated with common aetiologies seen in adults. AP secondary to hypercalcaemia due to primary hyperparathyroidism (PHPT) is very rare. The annual incidence of PHPT in adults is 30/100,000 with female predominance and 2–5/100,000 in children regardless of sex. We present a rare presentation of PHPT presenting with AP in a 12-year-old boy.<strong...

hrp0097p1-411 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone): Collecting Core Data Elements and Clinician and Patient-Reported Outcomes

Luisa Priego Zurita Ana , Cherenko Mariya , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , M de Rooij Tess , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , M Appelman-Dijkstra Natasha

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...

hrp0097p1-412 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Juvenile Paget's Disease: Evaluation of Novel Mutation and Treatment Response

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

hrp0097p1-413 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Obesity and Insulin Resistance in Patients with Achondroplasia

İnan Balcı Elif , Derya Kardelen Aslı , Baş Firdevs , Yıldız Melek , Poyrazoğlu Şükran , Darendeliler Feyza

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...

hrp0097p1-414 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide

Kunkel Philip , Al Halak Maesa , Bechthold-Dalla Pozza Susanne , Grasemann Corinna , Keller Alexandra , Muschol Nadine , Nader Sean , Palm Katja , Poetzsch Simone , Rohrer Tilman , Rutsch Frank , Schnabel Dirk , Voelkl Thomas , Vogt Bjoern , Wechsung Katja , Weigel Johannes , Woelfle Joachim , Pfaeffle Roland , Gausche Ruth , Beger Christoph , Mohnike Klaus

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

hrp0097p1-415 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

EuRR-Bone: Collecting Condition-Specific Outcomes on Fibrous Dysplasia/ McCune-Albright Syndrome

Luisa Priego Zurita Ana , O Bulaicon Oana , Arrieta Nerea , Bryce Jillian , Caballero Campos Magdalena , Chapurlat Roland , Doxiadis Gaby , Kassim Javaid M , Ovejero Crespo Diana , M de Rooij Tess , Seefried Lothar , Tessaris Daniele , Faisal Ahmed S , M Appelman-Dijkstra Natasha

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) were created in collaboration with the European Reference Network on Rare Bone Conditions (ERN-BOND). EuRR-Bone collects data using 2 platforms: e-REC, a tool that captures the occurrence of bone and mineral conditions, and the Core Registry which collects a set of Core Data Elements as well as longitudinal patient and clinician reported outcomes in condition specific module...

hrp0097p1-416 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Treatment dilemma in a prepubertal patient with ACAN mutation but without advanced bone age

Hürmüzlü Közler Selen , Gürpınar Gözde , Kilci Fatih , Koçyiğit Esra , Alanay Yasemin , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Aggrecan is a major proteoglycan component of the articular and growth plate extracellular matrix, encoded by the ACAN gene (MIM: 155760). Although short stature and various dysmorphic findings are observed in individuals with ACAN mutations, the relationship between genotype and phenotype is not clear.Case: A 6.75-year-old pre-pubertal girl presented with disproportionate short stature. She was full term f...

hrp0097p1-417 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Executive function, intelligence and bone mineral density: Do associations exist in childhood?

Moon Rebecca , D'Angelo Stefania , Crozier Sarah , Fernandes Michelle , Fall Caroline , Gale Catharine , Godfrey Keith , Davies Justin , Cooper Cyrus , Harvey Nicholas

Background: In later life, osteoporosis and poor cognitive function often co-exist. This has commonly been attributed to post-menopausal estrogen loss, but there is increasing recognition of cross-talk between the brain and bone. For example, in animal models, bone derived osteocalcin has positive associations with brain volume and cognitive function whilst brain-derived neurotransmitters appear to influence bone mass. Despite this, a common early life origin ...

hrp0097p1-418 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Comparison of efficacy and safety of oral cholecalciferol administration at 4-week intervals and daily administration to correct vitamin D deficiency in adolescents

Choi Jinjoo , Choe Yunsoo , Yang Seung

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...

hrp0097p1-419 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of the pediatric patients diagnosed with secondary osteoporosis

Singin Berna , Donbaloğlu Zeynep , Barsal Çetiner Ebru , Aydın Behram Bilge , Ünver Tuhan Hale , Parlak Mesut

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...

hrp0097p1-420 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Exploring Childhood Hypoparathyroidism: Stepwise Genetic Evaluation Approach

Gurpinar Tosun Busra , Alavanda Ceren , Kahveci Ahmet , Kurt İlknur , Kelestemur Elif , Yavas Abali Zehra , Helvacioglu Didem , Guran Tulay , Bereket Abdullah , Ata Pınar , Turan Serap

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...

hrp0097p1-421 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Bisphosphonate, sirolimus, atenolol treatment in a 4-year old child diagnosed with Gorham-Stout disease

Jin Park Su , Yeun Sim Soo , Suh Byung-Kyu , Bae Ahn Moon

Gorham-Stout disease(GSD), also known as vanishing bone disease is an extremely rare skeletal disorder characterized by idiopathic intraosseous proliferation of lymphatic vascular structures resulting in progressive resorption of bone. Herein, we report a case of a 4-year-old girl with GSD treated with the combination treatment with bisphosphonate, sirolimus, and atenolol. A 4-year-old girl presented with prolonged back pain for 2 weeks. The thoracolumbar spine radiography rev...

hrp0097p1-422 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Stüve-Wiedemann syndrome: an extremely rare disorder causing recurrent fractures.

Abdelmeguid Yasmine , Abdul-Aziz Ahmed

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

hrp0097p1-423 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Craniosynostosis in hypophosphatasia

Pitea Marco , Sala Elisa , Ruggero Lanzafame , Crocè Ludovica , Mora Stefano

Hypophosphatasia (HPP) is a rare genetic disease caused by mutations with loss of function in the ALPL gene, which encodes for non-specific tissue alkaline phosphatase (TNSALP). We report a case of infantile hypophosphatasia. Due to positive family history for hypophosphatasia, a chorionic villus sampling was made, with evidence in composed heterozygous of variants c.407G>A and c.1489T>C in the ALPL gene. At birth the patient did not have clinical complications, however ...

hrp0097p1-424 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Spondyloepiphyseal dysplasia tarda in a 10 years old boy treated for growth hormone deficiency

Boyadzhiev Veselin , Yordanova Nikolinka , Bazdarska Yuliya

We present a 10 years old boy, born from normal pregnancy, weght 3300 gr, lenght 51 cm. Normal motor and intellectual development. Family history for short stature - mother's height 150.3 cm (P2), target height 174.3 cm (P37). At 7 years of age the patient's height was 108.9 cm (- 2.4 SD) - below the target range. Bone age was delayed with more than -2 SD. Two stimulation tests for growth hormone (GH) assessment have been performed (with insulin and glucagon) –...

hrp0097p1-425 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Recombinant human growth hormone treatment for osteogenesis imperfecta: report of two cases

Eduardo Cruvinel Pinto Luís , Scheidemantel Aline , Junqueira Soares Gabriel , Ângela Ramires de Carvalho Julienne

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, short stature and non-skeleton findings. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) has been suggested as a potential intervention. We describe two boys with OI type I treated with rhGH.Case Reports: Patient 1 had the first frac...

hrp0097p1-426 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

COMP Gene Variant causing short stature and skeletal dysplasia

Montafia Ilaria , Aquisti Giulia , Bianco Carlo , Pagliero Federica , Rabbone Ivana , Prodam Flavia , Petri Antonella , Partenope Cristina , Bellone Simonetta

Introduction: Short stature is one of the main reasons leading a patient to the attention of the Pediatric Endocrinologist. It is important to know the possible causes of short stature, even the rarest genetic mutations associated with short stature. Although the diagnosis of short stature is primarily the result of physical examination with anthropometric measurements, biochemical and radiological data, genetical tests currently play an important role.<p ...