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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 P3

hrp0089p3-p031 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0089p3-p032 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report

Alqadi Ali , Raboei Enaam , Ghafouri Abdullah , Alguthami Albandari , Alghanmi Razan

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

hrp0089p3-p033 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A 13 Year-Old Boy Diagnosed as Osteogenesis Omperfecta with Normal Bone Mineral Density

Tınastepe Tuba , Filibeli Berna Eroğlu , Catlı Gonul , Dundar Bumin Nuri

Osteogenesis imperfecta is a hereditary connective tissue disease developing based on the structure or synthesis impairment of type 1 collagen and proceeding with diffuse osteoporosis, fragility, fractures and deformities in bones. Bone mineral density can be at normal or even high levels particularly especially in type I and XIII. Here, a 13 year-old boy diagnosed as osteogenesis imperfecta with normal bone mineral density was presented and treatment results were shared. A 13...

hrp0089p3-p034 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Rare Cause of Hypercalcemia in Childhood: Hypercalcemia Associated with Parathormon-Related Peptid

Catlı Gonul , Filibeli Berna Eroğlu , Demir Belde Kasap , Mutlubaş Fatma , Dundar Bumin Nuri

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...

hrp0089p3-p035 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II

Filibeli Berna Eroğlu , Kırbıyık Ozgur , Dundar Bumin Nuri

Introduction: Vitamin D resistant rickets type II (VDDR-II) is a disease with a difficult treatment developed as a result of mutations in VDR gene. Despite high dose active vitamin D and oral calcium treatments, sufficient recovery cannot be achieved mostly. Successful results with intravenous calcium infusion that is an alternative treatment have been reported; however, serious restrictions and complications such as hospitalization, catheter infection, thrombosis, skin necros...

hrp0089p3-p036 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Novel COL1A2 Gene Mutation in a Turkish Family with Osteogenesis Imperfecta

Binay Cigdem , Ciftci Ozcan

Background: Osteogenesis imperfecta (OI) is a rare congenital bone disease associated with defects in type I collagen synthesis resulting increased bone fragility, low bone mass, connective tissue manifestations and short stature. The majority of the types of OI are caused by autosomal dominant mutation in COL1A1 and COL1A2 genes. Here we showed the new, novel COL1A2 gene mutation at the heterozygous state in a family with OI.C...

hrp0089p3-p037 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent’s Disease

Godoy Claudia , Grob Francisca , Gonzalez Gilberto , Vogel Andrea , Zambrano Pedro

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

hrp0089p3-p038 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Infantile Hypophosphatasia

Buleş Derya , Aycan Zehra

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe)...

hrp0089p3-p039 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Carbonic Anhydrase Deficiency: Three Siblings

Buluş Derya , Tayfur Aslı Celebi , Yılmaz Deniz

Introduction: The carbonic anhydrase II (CA II) deficiency syndrome is a rare autosomal recessive disorder associated with osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification (CADS; autosomal recessive osteopetrosis type 3). Other features include visual and auditory impairment, short stature, a large cranial vault, history of multiple skeletal fractures, developmental delay and cognitive defects, anemia, splenomegaly and secondary erythropoiesis. We report...

hrp0089p3-p040 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Novel p.Gly775Glu Missense COL1A2 Mutation Causes Severe Osteogenesis Imperfecta in a Prepubertal Girl

Kotanidou Eleni P , Doulgeraki Artemis , Costantini Alice , Makitie Outi , Athanasopoulou Helen , Laliotis Nikolaos , Galli-Tsinopoulou Assimina

Background: Osteogenesis imperfecta (OI) due to COL1A1 and COL1A2 mutations is the most common cause of primary osteoporosis.Case presentation: We present a 10-year-old girl with a history of skeletal fragility, starting in the perinatal period. Her parents are not consanguineous and there is no family history of early osteoporosis. To date, she has sustained nineteen low-energy, long bone fractures and she has skeletal deformities (leg length discrepanc...

hrp0089p3-p041 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

SHOX Gene Deletion Screening by FISH in Children with Short Stature and Characteristics of Patients

Kurnaz Erdal , Savaş-Erdeve Şenay , Cetinkaya Semra , Aycan Zehra

Background: Short stature homeobox-containing (SHOX) gene that strongly affects height. Due to high prevalence of SHOX gene mutations, in all children with unexplained short stature should be investigated to benefit from early growth hormone (GH) treatment. The aim of this clinical study was to determine the rate of SHOX haploinsufficiency in short stature patients and describe their anthropometric measurements.Methods: Between...

hrp0089p3-p042 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018


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

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

hrp0089p3-p043 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Low Level of Vitamin D in Children Increases the Risk of Bone Fractures

Nicolas Georges , Hoyek Fady , Assaf Elias , Abi Fares Georges , Akiki Simon

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

hrp0089p3-p044 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Clinical Evaluation of Eight Patients with Parathyroid Adenoma

Direk Gul , Uzan Tatli Zeynep , Nur Hepokur Merve , Gul Şiraz Ulku , Akin Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Objective: According to the etiology of hyperparathyroidism, it is divided into primer and secondary (uremic). It usually develops due to CaSR mutation in the infancy period. On the other hand, it usually emerges secondary to a parathyroid adenoma in adolescents. Parathyroid adenomas seen in childhood are commonly associated with familial multiple neoplasia syndromes (MEN). Patients may present with bone pain, proximal myopathy, fractures, renal stone, pancreatitis or they can...

hrp0089p3-p045 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Idiopathic Hypoparathyroidism in a 10 Year-Old Girl with Concomitant Epilepsy, Long Q-T Syndrome (LQTS), Pericarditis and Pneumonia

Borysewicz-Sańczyk Hanna , Sawicka Beata , Kiryluk Barbara , Szumowski Piotr , Allgrove Dr. Jeremy , Bossowski Artur

Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it ...

hrp0089p3-p046 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

The Level of the Vitamin D and Bone Mineral Density in Children with Obesity

Mikhno Hanna , Solntsava Anzhalika , Vasilieva Natalia , Dashkevich Helena

Objective: To evaluate bone mineral density (BMD) and its relationship with vitamin D in children with obesity.Methods: We examined 110 children in the University Hospital (Minsk) from 2015 to 2018 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Body composition with evaluating of mineral component were made by dual energy X-ray absorptiometry with the calculation of feet, hands, spine, ribs, hips BMD (g/cm<s...

hrp0089p3-p047 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Evaluation of Bone Mineral Density and Bone Metabolism Markers in Children Diagnosed as Celiac Disease

Nur Peltek Kendirci Havva , Comba Atakan , Demir Emre

Introduction and aim: Metabolic bone disorders due to calsium and vitamin D deficiency are one of the most frequent extraintestinal symptoms in Celiac disease. In this study it is aimed to evaluate bone mineral density in patients with Celiac disease during diagnose and evaluate the factors related to bone mineral metabolism.Material and Method: The study included 43 children diagnosed as Celiac disease between December 2015 and December 2017. Clinical, ...

hrp0089p3-p048 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Comparison of Serum 25-Hydroxy Vitamin D Levels among Children & Adolescence with Attention Deficit Hyperactivity Disorder and Healthy Lranian People

Moayeri Heshmat

Background: Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent chronic behavioral disorder among children. No definite pathology is yet defined for this disorder and findings are in favor of multifactorial hypothesis.Aims: This study was performed with the aim of determining the association between vitamin D serum levels and ADHD among 6-14 year-old children referring to Imam Khomeini Hospital Complex during 2014–2015 in Tehran, I...

hrp0089p3-p049 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Evaluating the Effect of Zoledronic Acid on Treatment of Primary and Secondary Pediatric Osteoporosis at Children’s Hospital 1 in Vietnam

Huynh Loan , Tran Huyen , Nguyen Trung

Background: Osteoporosis is a condition of skeletal disorders characterized by compromised bone strength that predisposes to an increased risk of fracture. Osteoporosis is a common disease in adult, especially in postmenopausal women. Nevertheless, pediatric osteoporosis seems to be a rare disease, which increases risk of fracture not only in childhood period but also reach adult-hood. Therefore, the role of diagnosis correctly and appropriate treatment at this age group are v...

hrp0089p3-p050 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypocalcemia Secondary to Maternal Vitamin D Deficiency

Khan Khalid , Pathuri Babu

Background: 28 days old baby girl presented to ER with seizure like activity for the last two weeks, breast feeding well and thriving. Past history full term normal delivery, no neonatal complications and no maternal history apart from iron deficiency anemia. Case presentation summary: Examination unremarkable, vitals and sugar were stable intermittent jerky movements of the limbs with no stiffness. Investigations: calcium 7.4 mg/dL, Magnesuim (Mg) 0.52 mg/dL, phosphate 8.3 mg...

hrp0089p3-p051 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

hrp0089p3-p052 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Rare Case of Familial Hypocalcemia

Sozaeva Leila , Yanar Eda , Tiulpakov Anotoly , Kareva Maria , Orlova Elizaveta

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...

hrp0089p3-p053 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

HDR Syndrome: A Case Report of Hypoparathyroidism, Hearing Loss and Renal Agenesis

Dimitrova-Mladenova Mihaela , Todorova Zdravka , Stefanova Elisaveta , Kostova Antoaneta , Yordanova Desislava , Miteva Polina , Rusinov Dimitar

Background: Hypoparathyroidism, sensorineural deafness, and renal disease (HDR syndrome, Barakat syndrome) is a rare condition, caused by a mutation on chromosome 10p which affects the GATA3 gene. GATA3 encodes a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. Its expression has also been found in the thymus and the central nervous system. A wide range of renal involvement has been rep...

hrp0089p3-p054 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Growth in The Coeliac Disease of The Child

Bessahraoui Mimouna , Oussaleh Nassima

The aim of the present study was to evaluate growth of celiac disease (CD) patients. Subjects and methods: Growth was assessed by:-Longitudinal study of growth CD patients compared with the subjects studied by Sempé, Pédron.-Semi longitudinal case-control study. Controls were the brothers and sisters CD patients.Results: 1. Growth was significantly more delayed in C...

hrp0089p3-p055 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

The British OsteoNEcrosis Study: A Multi-centre Prospective Study

Amin Nadia , James Beki , Feltbower Richard , Mushtaq Talat , Kinsey Sally

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

hrp0089p3-p056 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta

Selveindran Nalini M , Hong Janet YH , Nawawi Nadiah Mohd , Murad Nor Azian Abdul , Jamal Rahman , Latiff Zarina Abdul , Aziz Bilkis Banu Abd , Zakaria Syed Zulkifli Syed , Zain Fuziah Md , Rasat Rahmah

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

hrp0089p3-p057 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Results of 22 Weeks of Burosumab Therapy in a Patient with Severe Bone Deformities due to XLH

Ruiz-Ocana Pablo , Roldan-Cano Virginia , Castellano-Mendoza Ana , Salazar-Oliva Patricia , Lechuga-Sancho Alfonso

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

hrp0089p3-p058 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Severe Neonatal Hypercalcemia: A Challenging Case

Hashim Raihana , Prematilake Dilusha , Gunasekara Buddi , Suntharesan Jananie , Kollurage Udeni , Atapattu Navoda

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder due to inactivating mutations of calcium-sensing receptor. These receptors are vital in calcium homeostasis and are expressed in a number of tissues such as parathyroid glands, renal tubules and bone. Homozygous mutations lead to severe hypercalcemia and life-threatening bone demineralization if untreated. A neonate born to 2nd degree consanguineous parents presented with poor feeding...

hrp0089p3-p059 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Assessment of Vitamin D Status in Healthy Pre-pubertal Egyptian Children

Hamza Rasha , Toeima Nadin , Hamed Amira

Background: Despite a shining sun all through the year, vitamin D deficiency is still prevalent in Egyptian children which suggests a relative resistance to vitamin D in Egyptian population.Aim: To assess 25(OH)D status in healthy pre-pubertal Egyptian children and to relate its levels to anthropometric parameters in these children.Methods: Sixty healthy children aged between 3 and 10 years coming to the Outpatient clinic, Children...

hrp0089p3-p060 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Are Caucasian Children at Risk of Sub-optimal Vitamin D Levels?

Shrikhande Krutika , Liu Nancy , Thavakumar Sankavi , Kumar Yadlapalli

Background: Low vitamin D levels have been linked to stunted growth and lower bone mineral density. Vitamin D insufficiency is a recognised condition in children in the UK. However, optimal levels of vitamin D are not adequately defined and guidance regarding supplementation is also limited.Aim: To identify vitamin D levels in a select cohort of Caucasian children aged 0–16 years, and describe how preterm birth, obesity, age and malabsorptive condit...

hrp0089p3-p061 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Incidence Rate of Vitamin D Deficiency in 12-year Old Children in Japan

Koyama Satomi , Naganuma Junko , Kubota Takuo , Ozono Keiichi , Arisaka Osamu , Yoshihara Shigemi

Back ground: The incidence rate of vitamin D deficiency is increasing throughout the world in recent years, but the rate of vitamin D deficiency in Japan is unknown.Aims: We measured the incidence rate of vitamin D deficiency in 12-year old children in Japan.Methods: A total of 492 children (247 boys and 245 girls) from one Japanese community enrolled in this study. At age 12, 25 hydroxyvitamin D (25OHD) were measured in all childr...

hrp0089p3-p062 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Idiopathic Juvenile Osteoporosis: Common Symptoms in an Uncommon Condition

Uppal Saurabh , Senniappan Senthil , Dharmaraj Poonam , Hughes David

Introduction: Osteoporosis in children and young people can be primary due to Osteogenesis Imperfecta (OI) or secondary to chronic disease. We report 2 patients with Idiopathic Juvenile Osteoporosis (IJO), a rare primary osteoporotic disorder.Case 1: A 12 year old boy presented with 12 months of lower back pain and stiffness, against a background of chronic pain in knees, wrist and ankles. There was no history of fractures or systemic disease. Examinatio...

hrp0089p3-p064 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypercalcemia Associated with Increased Parathyroid Hormone-related Protein (PTHrP) in a Patient with Medulloblastoma Successfully Treated with Pamidronate

Kang Seok Jin , Kim Heung Sik

We report a patient with medulloblastoma showing severe hypercalcemia and a raised PTHrP serum level. He was a 19-year-old with a history of recurrent medulloblastoma. He developed constipation, lethargy and altered mentality for 3 weeks. There was no family history of hypercalcemia. Laboratory test revealed hypercalcemia of 18.2 mg/dL. PTHrP increased to 10.7 pmol/L (normal range: <1.1 pmol/L), whereas serum level of intact parathyroid hormone was suppressed to 5 pg/mL (n...

hrp0089p3-p065 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Novel Deletion Mutation in the GLUT 2 Gene in a Patient with Fanconi Bickel Syndrome

Noorian Shahab , Aghamahdi Fatemeh , Rad Samira Saee

Glucose transporter 2(GLUT2), a transmembrane carrier protein that facilitates glucose movement across cell membranes, is an essential protein in carbohydrate metabolism. Mutation of SCL2A2 gene, which encodes this transporter, leads to a rare well- defined entity called glycogen storage disease type XI (GSD XI) also known as Fanconi Bickel syndrome. The result of this defect is hepatomegaly, proximal tubular dysfunction, fasting hypoglycemia, glucose intolerance, failure to t...

hrp0089p3-p066 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Case of Turner Syndrome with Graves’ Disease and Primary Hyperparathyroidism

Nagaki Shigeru , Tachikawa Emiko , Obara Takao , Osawa Makiko , Nagata Satoru

A 12-year 8-month-old girl visited our hospital due to short stature. Her height was 130.7 cm (−3.6SD), and her weight was 42 kg (−0.24 SD). She had cubitus valgus and breast budding (Tanner stage II) without a webbed neck, congenital heart anomaly, exophthalmos, or goiter. Laboratory results in serum were as follows: Ca 10.3 mg/dL, LH11.7 mIU/mL, FSH37.7 mIU/mL, estrogen 18.6 pg/mL, IGF-1 304 ng/mL, and bone age 12 years and 0 months. All other laboratory findings...

hrp0089p3-p067 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Neonatal Hypocalcemia Revealing a Malignant Osteopetrosis

Porquet-Bordes Valerie , Gohier Heloise , Lescure Sandra , Pasquet Marlene , Baunin Christiane , Gennero Isabelle , Tauber Maite , Salles Jean Pierre , Edouard Thomas

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

hrp0089p3-p068 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta

Porquet-Bordes Valerie , Grandgeorge Naia , Moulin Pierre , Cheuret Emmanuel , Boetto Sergio , Sales De Gauzy Jerome , Gennero Isabelle , Tauber Maite , Edouard Thomas , Salles Jean Pierre

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...

hrp0089p3-p069 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Ionized Calcium and 25-Hydroxyvitamin D3 in Children with Steroid-sensitive Nephrotic Syndrome

Abdelmeguid Yasmine Ashraf , Omar Omneya Magdy , Sharaki Ola Atef , Kersh Mahmoud Mohi El-Din El

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

hrp0089p3-p070 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Hypercalcemia due to Six Newly Identified Inactivating Mutations in the CaSR Gene

Kor Yılmaz

Introduction: Heterozygous inactivating mutations that occur in the calcium sensing receptor (CaSR) gene often lead to benign mild to moderate and parathormone (PTH) dependent familial hypocalciuric hypercalcemia (FHH). Neonatal severe hyperparathyroidism is a clinical condition that develops due to homozygous inactivating mutations in the CASR gene and results in severe, life-threatening hypercalcemia. In this study, we aimed to discuss the differences in clinical, genetic, l...