ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Volume 82 | ESPE2014 | Next issue

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 3

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Bone (2)

hrp0082p3-d2-673 | Bone (1) | ESPE2014

Normal Bone Mineral Acquisition in Korean Adolescents; Korea National Health and Nutrition Examination Surveys

Park Hye Won , Kwak Byung Ok , Kim Kyo Sun , Chung Sochung

Background: The large portion of bone mass is acquired with body growth during adolescent period and peak bone mass is achieved in early adulthood. Body composition is known as predictor of bone health.Objective and hypotheses: The aims of this study were to evaluate normal bone mineral acquisition during adolescent period and to determine the factor that affects on it in Korean.Method: This study was based on data from the Fourth ...
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hrp0082p3-d2-674 | Bone (1) | ESPE2014

Klippel-Trenaunay-Weber Syndrome: the First Case Report in an African Child

Jarrett Olumide , Fasina Kehinde

Background: Klippel-Trenaunay-Weber syndrome is characterized by a triad of port-wine stain, venous malformation, and bony and soft tissue hypertrophy. Most patients would have two out of the three features. It is a rare disorder occurring in one out of 100000 live births. Diagnosis is largely clinical. The cause is unknown but could be due to a sporadic genetic mutation. Management is conservative.Objective and hypotheses: We report a case of a 4month-o...
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hrp0082p3-d2-675 | Bone (1) | ESPE2014

FGFR3 Gene: a Very Rare Mutation

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Quintero Victor , Trujillo-Tiebas Maria Jose , Canete Alfonso

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...
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hrp0082p3-d2-676 | Bone (1) | ESPE2014

Abstract withdrawn....
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hrp0082p3-d2-677 | Bone (1) | ESPE2014

Risk Factors Affecting the Development of Nephrocalcinosis, the Most Common Complication of Hypophosphatemic Rickets

Keskin Meliksah , Erdeve Senay SavaS , Sagsak Elif , Aycan Zehra , Cetinkaya Semra

Background: Hypophosphatemic rickets is a clinical picture with inadequate bone mineralization that develops following renal phosphate loss. One of the most common complications in this group of patients is nephrocalcinosis. However, the mechanisms causing nephrocalcinosis are not clear.Objective and hypotheses: The aim of our study was to define the risk factors affecting the development of nephrocalcinosis, which is reported to be seen at a rate of 50%...
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hrp0082p3-d2-678 | Bone (1) | ESPE2014

When is Epilepsy Not Epilepsy

Lloyd-Nash Richard , Randell Tabitha

Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.Objective and hypotheses: To confirm not all seizures are epileptiform.Method: Case reports.Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy med...
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hrp0082p3-d2-679 | Bone (1) | ESPE2014

Evaluation of Patients with Stunting in Armenia

Markosyan Renata , Volevodz Natalya , Perikhanyan Anush

Background: We analyzed characteristics of patients with stunting admitted at Endocrinology Department of Muratsan University Medical Settings, the only specialized center in Armenia. No similar study was carried out in this region.Objective and hypotheses: Patients (n=102) were evaluated prospectively.Method: The following parameters were used for statistical analysis- demographic information, diagnosis, anthropometric da...
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hrp0082p3-d2-680 | Bone (1) | ESPE2014

Fluctuation in Cerebral Calcification in a Patient with Pseudohypoparathyroidism Type 2

Sukarova-Angelovska Elena , Kocova Mirjana , Lekovska Olivera

Background: Pseudohypoparahthyroidism is a rare genetic disorder that is characterized by unresponsiveness to parathyroid hormone and abnormal calcium regulation. Several subtypes have been established according to clinical appearance, resistance of other hormones, and recent genetic findings. Although little is known about the pathogenesis of heterotopic calcifications of soft tissues and brain, they are frequently found.Objective and hypotheses: Evalua...
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hrp0082p3-d2-681 | Bone (1) | ESPE2014

Variability in Clinical and Genetic Spectrum in Hypophosphatasia: Natural History in Two Patients

Martos-Moreno Gabriel A , Lerma Sergio , Garcia-Esparza Elena , Argente Jesus

Background: Hypophosphatasia (HPP) is inherited in an autosomal recessive fashion, although symptoms in heterozygous carriers are described. Age at symptom onset determines six clinical forms with different severity and prognosis, but showing phenotypic overlapping.Objective: We aimed to show this genetic and clinical variability by analyzing two cases.Case 1: Male, born at 38+5 weeks with 2250 g (−2.22 SDS) and 45 cm (&#8722...
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hrp0082p3-d2-682 | Bone (1) | ESPE2014

Cautionary Tales in the Management of Transient Neonatal Hypoparathyroidism

Mulvey Ian Robert , Frerichs Carley , Dharmaraj Poonam , Ramakrishnan Renuka

Background: Transient hypoparathyroidism is a recognised cause of hypocalcaemia during the neonatal period and difficult to differentiate from permanent forms.Objective and hypotheses: We present the challenges of monitoring and managing neonates with hypocalcaemia and inappropriately low PTH.Method: Cases 1 and 2 had congenital heart disease (CHD) but were FISH negative for 22q11 deletion. Both were treated with supplemental doses...
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hrp0082p3-d2-683 | Bone (1) | ESPE2014

Two Different Diagnosis of Pseudohypoaldosteronism

Bulus Derya , Andiran Nesibe , Colakoglu Elif Yagli , Altuntas Nilgun

Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases ...
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hrp0082p3-d2-684 | Bone (1) | ESPE2014

Clinical Phenotype and Molecular Studies in Patients with Hypophosphatemic Rickets

Obara-Moszynska Monika , Rojek Aleksandra , Kolesinska Zofia , Slomko-Jozwiak Malgorzata , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...
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hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...
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hrp0082p3-d2-686 | Bone (1) | ESPE2014

I.V. Zolendronic Acid: Experience of Treatment of Children with Osteogenesis Imperfecta in Indonesia

Pulungan A , Zacharin M , Armstrong K , Soesanti F , Pramesti D L

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...
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