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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Bone & Mineral Metabolism P2

hrp0086p2-p146 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Mineral Status and Metabolism in Patients with Williams-Beuren Syndrome

Stagi Stefano , Scalini Perla , Chiarelli Francesco , Verrotti Alberto , Giglio Sabrina , Ricci Franco , Lapi Elisabetta , Romano Silvia , Martino Maurizio de

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

hrp0086p2-p147 | Bone & Mineral Metabolism P2 | ESPE2016

The Beneficial Effect of Cinacalcet on the Treatment of vitD Resistant Rickets

Akinci Aysehan , Dundar Ismaıl

Background: Patients with vitD resistant rickets (VDRR) due to vitD receptor (VDR) mutations have extreme rickets along with alopesia, severe hypocalcemia, hypophosfatemia secondary to hyperparathroidism and elevated 1,25(OH)2vitD. Although there is no standard therapy for this patients, long-term or intermittanat i.v. or high dose oral calcium suplementations are recommended to correct the hypocalcemia and secondary hyperparathyroidism. ...

hrp0086p2-p148 | Bone & Mineral Metabolism P2 | ESPE2016

A Preliminary Report on Body Composition Profile of Young Patients with Chronic Hemolytic Conditions

Doulgeraki Artemis , Chatziliami Antonia , Athanasopoulou Helen , Polyzois Georgios , Petrocheilou Glykeria , Iousef Jacqueline , Karabatsos Fotis , Schiza Vasiliki , Fragodimitri Christina

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

hrp0086p2-p149 | Bone & Mineral Metabolism P2 | ESPE2016

Bone Status in a Patient with IGF-I Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using DXA, pQCT, and QUS

Stagi Stefano , Pelosi Paola , Scalini Perla , Cavalli Loredana , Pantaleo Marilena , Lapi Elisabetta , Martino Maurizio de

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

hrp0086p2-p150 | Bone & Mineral Metabolism P2 | ESPE2016

Prevalence of Vitamin D Deficiency in Haitian Infants and Children

von Oettingen Julia Elisabeth , Sainvil Michele , Lorgeat Viviane , Mascary Marie-Christine , Feldman Henry , Carpenter Christopher , Bonnell Ric , Larco Nancy , Larco Philippe , Stafford Diane , Jean-Baptiste Eddy , Gordon Catherine

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

hrp0086p2-p151 | Bone & Mineral Metabolism P2 | ESPE2016

Progressive Development of PTH Resistance in Patients with Maternal GNAS Inactivating Mutations

Usardi Alessia , Mamoune Asmaa , Nattes Elodie , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), Albright’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...

hrp0086p2-p152 | Bone & Mineral Metabolism P2 | ESPE2016

Effect of Hydroxyurea Therapy on Growth Parameters in Older Children with Sickle Cell Disease

Alomairi Anwar , Almullabd Sharef , Khater Doaa , Al-Yaarubi Saif , Nazir Hanan , Wali Yasser

Background: Growth impairment is a known complication of sickle cell disease (SCD). Effects of hydroxyurea (HU) on growth in older children with SCD have never been reported.Objective and hypotheses: This study was done to explore the potential effects of HU on growth parameters of older children with SCD and correlate these changes with clinical improvement.Method: A prospective study was conducted on 97 SCD patients started on HU...

hrp0086p2-p153 | Bone & Mineral Metabolism P2 | ESPE2016

Evaluation of ALP Value in Early Prediction of the Effects of Growth Hormone Treatment in Children with Growth Hormone Deficiency (GHD)

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

hrp0086p2-p154 | Bone & Mineral Metabolism P2 | ESPE2016

Comparison of Two Different Stoss Therapy Doses in Children with Vitamin D Deficiency or Insufficiency without Rickets

Kocyigit Cemil , Catli Gonul , Ince Gulberat , Can Penbe S. , Dundar Bumin N

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...

hrp0086p2-p155 | Bone & Mineral Metabolism P2 | ESPE2016

Bisphosphonate Treatment of Hypercalcemia in a Child with Jansen’S Metaphyseal Chondrodysplasia

Sharwood Erin , Harris Mark

Background: Jansen’s Metaphyseal Chondrodysplasia is a rare autosomal dominant condition caused by activating mutations in the parathyroid hormone/parathyroid hormone related peptide receptor (PTH1R). It is associated with persistent PTH-independent hypercalcemia and hypercalciuria from an early age. Our patient, a 2 year old boy with genetically proven Jansen’s Metaphyseal Chondrodysplasia, developed bilateral medullary nephrocalcinosis secondary to persistent hyper...

hrp0086p2-p156 | Bone & Mineral Metabolism P2 | ESPE2016

Physical Exercise Level is Associated to Peak Bone Mass in Undergraduate Students

Vargas Deisi Maria , Dominoni Robson Luiz , Nunes Carlos Roberto Oliveira , Sousa Clovis Arlindo

Background: Promotion of high pick bone mass is one of the strategies to prevent osteoporosis in adult life. Undergraduate students are still in the age group of mineral acquisition and, therefore, their lifestyle may influence this process. Physical exercise is an important lifestyle characteristic for optimize peak bone mass (PBM).Objective: To evaluate bone mass in undergraduate students with different lifestyle.Methods: Observa...

hrp0086p2-p157 | Bone & Mineral Metabolism P2 | ESPE2016

A Case with Lethal Perinatal Hypophosphatasia

Ucakturk Seyit Ahmet , Demirel Fatma , Gonulal Deniz , Elmaogullari Selin , Yilmaz Aslihan , Unal Sevim

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

hrp0086p2-p158 | Bone & Mineral Metabolism P2 | ESPE2016

Anthropometric and Nutritional Parameters in Egyptian Children with Osteogenesis Imperfecta: Effect of Zoledronic Acid Therapy

Hamza Rasha , Abdelaziz Tarek , Elakkad Magdy

Background: Patients with osteogenesis imperfect (OI) present with various degrees of short stature and nutritional disorders.Objective and hypotheses: To evaluate anthropometric and nutritional parameters in OI children and their variability among various types.Methods: Eighty-four patients with OI (types I, II, and IV) were subjected to the following anthropometric measurements: standing height (Ht), sitting height (SH), arm span...

hrp0086p2-p159 | Bone & Mineral Metabolism P2 | ESPE2016

Low Bone Mineral Density in Adolescents with Joint Hypermobility

Salehpour Shadab , Setavand Somayeh

Background: Generalized joint hypermobility is quite common and seems to be a risk factor for low bone density.Objective: The goal of this study was to determine the bone mineral density in adolescents with hypermobility syndrome.Materials and methods: In a cross-sectional study, we measured the bone mineral density (BMD) and bone mineral apparent density (BMAD) of 32 children, 13 to 18 years old with benign hypermobility syndrome ...

hrp0086p2-p160 | Bone & Mineral Metabolism P2 | ESPE2016

Fractures in Children with Type 1 Diabetes are Associated with Poorer Bone Mineral Status and Glycaemic Control

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane D , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

hrp0086p2-p161 | Bone & Mineral Metabolism P2 | ESPE2016

Identification of Predictor Factors of Growth Outcome in Children with Hypophosphatemic Rickets

Marin del Barrio Silvia , Sancho Paula Casano , Naderi Ruben Diaz , Cots Jordi Vila

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

hrp0086p2-p162 | Bone & Mineral Metabolism P2 | ESPE2016

Effects of Socioeconomic Status on Bone Mineral Density and Vitamin D Concentrations in Healthy Female College Students

Ersoy Betul , Kizilay Deniz Ozalp , Gumuser Gul , Taneli Fatma

Background: Skeletal mass approximately doubles at the end of adolescence. Socioeconomic Status (SES) and Vitamin D status may play a role in the development of bone mass.Objective and hypotheses: The aim of the present study is to examine the effects of different socioeconomic conditions on bone mineral density (BMD) and vitamin D status in healthy female college students and to determine the possible association between Vitamin D status and BMD.<p ...

hrp0086p2-p163 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bone Health Index is Low at Diagnosis of Growth Hormone Deficiency, and Improves During Growth Hormone Therapy

Blair Joanne , Povall Ann , McCoy Paul , Dharmaraj Poonam , Das Urmi , Ramakrishnan Renuka , Senniappan Senthil , Abernethy Laurence , Didi Mohammed

Background: BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals, and bone age (BA) using 13 bones: Radius, ulna and bones in ray 1, 3, 5. Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported 1. Low bone mineral density (BMD), measured by DXA, and improvement with GH is described in childhood GH deficiency (GH...

hrp0086p2-p164 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Vitamin D Dependent Rickets Type II in Saudi Children

Alashwal Abdullah , Aldhalaan Waheeb , Abbas Bassam Bin

Background: Vitamin D dependent rickets type II (VDDR II) is a rare autosomal recessive disorder, inherited due to mutation on vitamin D receptor (VDR) leading to end organ unresponsiveness to vitamin D. It is characterized by an early onset refractory rickets, hypocalcaemia, hypophosphatemia, growth retardation, hyperparathyroidism and elevated circulating levels of 1,25-dihydroxyvitamin D3 which is the hallmark of the disease.Objective and hypotheses: ...

hrp0086p2-p165 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bone Health and Metabolic Syndrome in Childhood Cancer Survivors

Young Yoon Ju , Shin Kyung-Sue , Jin Park Hyeon , Kiu Park Byung , Park Chan-Hoo , Mi Kwon Mi , Young Shim Hye , Hwa Baek Sun , Young Ju Hee , Mi Kim Young

Background: Metabolic syndrome and impaired bone health are common complications in childhood cancer survivors, and both are possibly related with decreased physical activities.Objective and hypotheses: We aimed to evaluate the prevalence rates of metabolic syndrome and osteopenia in adolescent/young adult childhood cancer survivors. We also aimed to investigate the relationship between physical activity and these complications.Met...

hrp0086p2-p166 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0086p2-p167 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Expression of Brdu, VEGF, IGF-1R and Change of the Growth Plates from Sex Hormone-Inhibited Adolescents Rats – Pilot Study

Shin Jae-Ho , Seo Ji-Young

Background: GnRHa (gonadotropin releasing hormone analogue) inhibits growth spurt during treatment of precocious puberty. So they have limitation of final height gain.Objective and hypotheses: It is need to study about what factor associated with growth decrement and ideal suppression level of sex steroid during GnRHa treatment.Method: Female Sprague–Dawley rats of 3 weeks of age (Total 15) were divided into three groups; (1) ...

hrp0086p2-p168 | Bone &amp; Mineral Metabolism P2 | ESPE2016

A Case of Genetically Proven Carbonic Anhydrase II Deficiency

Todorova Zdravka , Stefanova Elissaveta , Kazakova Krasimira , Yordanova Desislava , Litvinenko Ivan

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

hrp0086p2-p169 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Rickets as Precocious Sign of Celiac Disease

Cristina Maggio Maria , Vergara Beatrice , Corsello Giovanni

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

hrp0086p2-p170 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Clinical and Genetic Analysis of Five Patients with Vitamin D-Dependent Rickets Type 1A

Hacıhamdioglu Bulent , Ozgurhan Gamze , Karakaya Zeynep , Keskin Ece

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

hrp0086p2-p171 | Bone &amp; Mineral Metabolism P2 | ESPE2016

About a Case of a Family of Pycnodysostose

Rouabah Nadira , Bioud Belkacem

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

hrp0086p2-p172 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Potential Role of Vitamin D in Pathogenesis of Acute Rheumatic Fever

Hanedan Onan Sertac , Demirbilek Huseyin , Aldudak Bedri , Bilici Meki , Demir Fikri , Muhtar Yilmazer Murat

Background: Acute rheumatic fever (ARF) is a non-suppurative complication of Group A beta-hemolytic streptococcus pharyngitis. The underlying mechanisms have not been fully elucidated. A series of autoimmune processes are thought to be involved in pathogenesis. Low vitamin D levels have been reported in various autoimmune diseases.Objective and hypotheses: The aim of the present study is to evaluate the association of vitamin D levels and its impact on t...

hrp0086p2-p173 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bartter Syndrome with Bone-Destroying Hyperparathyroidism: About Two Cases, Genetically Proved, with Long-Lasting Follow-Up

Novo Robert , Cartigny Maryse , Lefevre Christine , Weill Jacques

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

hrp0086p2-p174 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Management of Hypoparathyroidism: Follow-Up of 20 Patients

Darcan Sukran , Ozcan Nurhan , Ozen Samim , Goksen Damla

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

hrp0086p2-p175 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Assessing the Serum Levels of Ferritin and Selenium in Three Important Infections of Childhood, Compared to a Control Group

Soheilipour Fahimeh , Noorbakhsh Samileh , Javadnia Shima , Jesmi Fatemeh , Pishgahroudsari Mohadeseh , Mohammadi Gholamreza

Background: Micronutrients play a fundamental role not only in general health, but also in treatment and protection of various diseases. Selenium and iron are two of the five major elements, aside from vitamins, detected as anti-oxidant agents, widely used with the aim of preventing diseases.Objective and hypotheses: The purpose of this study is to evaluate serum levels of selenium and ferritin in acute infections of childhood.Meth...

hrp0086p2-p176 | Bone &amp; Mineral Metabolism P2 | ESPE2016

A Case: Hydrocephalus Secondary to Suprasellar Arachnoid Cyst with Reset Osmostat and Isolated GH Deficiency

Kurnaz Erdal , Aycan Zehra , Akdemır Ozısık Pınar , Keskin Meliksah , Bayramoglu Elvan , Muratoglu Sahin Nursel , Savas Erdeve Senay , Cetinkaya Semra

Background: Hyponatremia is defined as a serum sodium level below 135 mEq/l. It is associated with increased morbidity and mortality. Hyponatremia has many causes and can be classified as acute/chronic or hypo/hypo/euvolemic. The main rule in fluid and electrolyte disorders (and especially in hyponatremia) is excluding hypothyroidism and hypocortisolism and then making the correct diagnosis. Hypothyroidism and hypocorticolism can also cause euvolemic chronic hyponatremia but t...

hrp0086p2-p177 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Cinacalcet Treatment in a Child with Concurrent Juvenile Idiopathic Arthritis and Hypocalciuric Hypercalcemia

Hacihamdioglu Bulent , Delil Kenan , Ozkaya Ozan

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately hig...

hrp0086p2-p178 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism 1a with Turner’s Syndrome: A Diagnostic Dilemma

Kumar Gupta Abhinav , Razi Syed Mohd. , Chand Gupta Deepak , Kumar Gupta Keshav

Background: Pseudohypoparathyroidism (PHP) is a rare condition with heterogeneous presentation. It is divided in various subgroups depending upon the manifestations. Type 1a Pseudohypoparathyroidism usually presents with brachydactyly, short stature along with other manifestations of Albright’s hereditary osteodystrophy (AHO) like obesity, mental retardation. The basic pathology is resistance to hormonal actions associated with G protein coupled receptors due defective GN...

hrp0086p2-p179 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bisphosphonate Use for Control of Chronic Severe Bone Pain in Children with Malignancy Associated Bone Involvement

Joshi Kriti , Zacharin Margaret

Background: Bone involvement occurs commonly in pediatric malignancies, due to infiltration, metastasis or avascular necrosis. Pain is frequently chronic, debilitating, requires narcotic analgesia and can result in immobilization in bed or wheelchair. Intravenous bisphosphonates whilst primarily acting as osteoclast inhibitors also result in rapid and often complete pain relief in primary bone fragility disorders. When administered to children with malignant conditions affecti...

hrp0086p2-p180 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Renal Tubular Acidosis Causing Severe Growth Delay and Rickets in Two Siblings in Haiti

Dearthlie Bernadeau , von Oettingen Julia , Van Vliet Guy , Desmangles Jean-Claude , Louis Hermione Risseline , Jean Louis Romain

Background: Renal tubular acidosis (RTA) is an uncommon cause of growth failure and rickets. In Haiti, diagnostic evaluation and management is challenged by limited access to comprehensive diagnostic tools.Case presentation: An 8-year-old Haitian girl was evaluated at an academic referral center for bony deformations and bone pain, progressive over the previous six years. Her 2.5 year-old sister presented similar symptoms, associated with dental caries a...

hrp0086p2-p181 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism Type IB Associated to Assisted Reproductive Technologies: Case Report

Fernandez Monica , Riquelme Joel , Castiglioni Claudia , Jueppner Harald W , Mericq Veronica

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

hrp0086p2-p182 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Primary Hyperparathyroidism- A Cause of Metabolic Syndrome in Children?

Ioana Arhire Amalia , Pavel Madalina , Florea Suzana , Miron Adrian , Gabriela Barbu Carmen

Introduction: We report a case of a 15 year old male with metabolic syndrome due to primary hyperparathyroidism.Case report: A 15 year old male was admitted in our department for the evaluation and management of obesity. His medical history revealed a progressive weight gain in the last 3 years in an emotional familial context. Clinical features: Obesity: Z-score of +2.32 DS, a height of 1.80 m and a weight of 108 kg, with a BMI of 33.3...

hrp0086p2-p183 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Hyperphosphatemic Familial Tumoral Calcinosis: Novel Indication to Sevelamer Carbonate

Fuentes-Bolanos Noemi , Canovas Sanchez Laura , del Toro Codes Marta , Martinez Moya Gabriela , Natividad Pedreno Moises , de la Cruz Moreno Jesus

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

hrp0086p2-p184 | Bone &amp; Mineral Metabolism P2 | ESPE2016

DiGeorge Syndrome and 10p Deletion

Sari Erkan , Akar Hatice , Akin Onur , Zeybek Cengiz , Kozan Salih , Unay Bulent , Yesilkaya Ediz

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...

hrp0086p2-p185 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Multifocal Osteonecrosis after Short Term Methylprednysolon Therapy: A Case Report

Kumaraku Aferdita Tako , Bushati Aida , Gjikopulli Agim , Shehu Armand , Grimci Lindita , Tomorri Sonila , Babo Alma , Mecani Reinald , Basholli Besmira , Dervishi Ermira , Velmishi Virtut , Kollcaku Laurant , Cullufi Paskal

Background: Osteonecrosis is a common sequela of long-term steroid therapy. This paper presents the only case of multifocal osteonecrosis to occur after a short-term course of methylprednisolone for treatment Steven Johns syndrome.Objective and hypotheses: To report a case with multifocal osteonecrosis after short-term methylprednysolon therapy.Method: The child A.N. 15 years old with multifoc...

hrp0086p2-p186 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Unclear Origin of Avascular Necrosis – Clinical Case

Revenco Ninel , Eremciuc Rodica , Grin Olesea , Bogonovschi Livia , Foca Silvia

Background: Glucocorticoid (GC) treatment is associated with many unwanted effects but osteoporosis and fractures are the most serious adverse events. Several large case–control studies have shown strong associations between exposure to glucocorticoids and the risk of fractures. By other hand, multiple factors have been associated with avascular necrosis (AVN) in systemic lupus erythematosus (SLE), but it is steroid use that has been...

hrp0086p2-p187 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Is NOTCH-Sonic Hedgehog Signalling Pathway the Missing Link Between Hajdu-Cheney Syndrome and Syringomyelia?

Patil Prashant , Dharmaraj Poonam , Fryer Alan , Didi Mohammed

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

hrp0086p2-p188 | Bone &amp; Mineral Metabolism P2 | ESPE2016

The Unexpected Cause of Vitamin D Deficiency in a Resource Limited Setting: A Rare Case Report of Primary Intestinal Lymphangiectasia

Joel Dipesalema , Gabaake One , Nchingane Seeletso , Mazhani Loeto

Background: Vitamin D deficiency is a common problem in paediatrics caused by a number of factors ranging from malnutrition, limited exposure to sunlight, chronic illness and chronic medications.Objective and hypotheses: We report on a rare case of Primary Intestinal Lymphangiectasia (PIL) presenting in a tertiary centre in Botswana with Vitamin D deficiency and failure to thrive.Method: A 2 m...

hrp0086p2-p189 | Bone &amp; Mineral Metabolism P2 | ESPE2016

About a Case of Dwarfism Idiopathic

Rouabah Nadira , Bioud Belkacem , Cormier-Daire Valerie

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...