Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

hrp0082p3-d3-686 | Bone (2) | ESPE2014

Bone Health in a Cohort of Irish Spinal Muscular Atrophy Patients

Mc Sweeney Niamh , Mc Kenna Malachi , Webb David , van der Kamp Susan , Kilbane Mark , O' Keane Myra , Lynch Bryan

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

hrp0082p3-d3-687 | Bone (2) | ESPE2014

Endocrinological Assessment of Children with Bronchiectasis

Ozgen Ilker Tolga , Cakir Erkan , Gedik Hakan , Gokce Selim , Atilla Nursoy Mustafa , Cesur Yasar

Background: Bronchiectasis is a result of recurrent pulmonary infections and chronic inflammation.Objective and hypotheses: Chronic inflammation may lead some endocrinological disorders. The consequences of the bronchiectasis on the endocrinological system and on the bone health in childhood were investigated in this study.Method: The medical records of the 64 children with bronchiectasis (32 females and 32 males) at the mean age o...

hrp0082p3-d3-688 | Bone (2) | ESPE2014

Infantile Hypophosphatasia

Slaveska Nevenka , Krstevska-Konstantinova Marina , Trajkovski Zoran

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile HP (IHP) is one of the six recognized clinical forms according to age at presentation and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the metaphyses, prem...

hrp0082p3-d3-689 | Bone (2) | ESPE2014

Vitamin D Levels in Short Prepubertal Children Born Small for Gestational Age

Korpal-Szczyrska Maria

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

hrp0082p3-d3-691 | Bone (2) | ESPE2014

Bone Mineral Density and Vitamin D Status in Girls and Adolescents with Turner Syndrome

Baz Ouidad , Semrouni Mourad , Sakher Samia , Griene Lakhdar , Hammomraoui Nadir , Djoudi H

Background: Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be over diagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according...

hrp0082p3-d3-692 | Bone (2) | ESPE2014

Vitamin D Deficiency in Children

Dobrescu Andreea , Chirita-Emandi Adela , Papa Maria , Puiu Maria

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

hrp0082p3-d3-693 | Bone (2) | ESPE2014

The Use of Pamidronate in Pediatric Patients with Disease of Other than Osteogenesis Imperfecta: the Experience of Our Center

Guven Ayla , Helvacioglu Didem , Hancili Suna , Yildiz Metin

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

hrp0082p3-d3-694 | Bone (2) | ESPE2014

McCune–Albright Syndrome Associated to Hypophosphatemic Rickets

dos Santos Tiago Jeronimo , Passone Caroline , Filho Hamilton Menezes , Kuperman Hilton , Manna Thais Della , Steinmetz Leandra , Cominato Louise , Dichtchekenian Vae , Pupo Joyce , Setian Nuvarte , Damiani Durval

Introduction: McCune–Albright syndrome (MAS) is a genetic disorder characterized by constitutive activation of Gsα, resulting in excessive activity of multiple hormones. The most known clinical characteristics are the presence of polyostotic fibrous dysplasia (FD), hyperpigmented skin spots, and gonadotropin-independent precocious puberty (PP). However, other endocrine manifestations can be found like hypophosphatemic rickets due to FGF-23-induced renal phosphate was...

hrp0082p3-d3-695 | Bone (2) | ESPE2014

Clinical Effects of Vitamin D in Asthma

Dogru Mahmut , Kirmizibekmez Heves , Mutlu Gul Yesiltepe , Aktas Alev

Background: In both asthma and vitamin D deficiency is common. The results from studies examining the relationship between them is contradictory.Objective and hypotheses: The aim of this study was to investigate the relationship vitamin D levels and clinical parameters of asthma in children.Method: One hundred twenty children with asthma, followed up in Pediatric Allergy and Immunology Department were included. Seventy-four childre...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0082p3-d3-697 | Bone (2) | ESPE2014

A Case with Odontohypophosphatasia and Family Investigation

Cakir Esra Deniz Papatya , Ture Mehmet , Saglam Halil , Ucakturk Seyit Ahmet , Erdol Sahin , Eren Erdal , Yakut Tahsin , Tarim Omer

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

hrp0082p3-d3-698 | Bone (2) | ESPE2014

TSH/fT4 Ratio as a Marker of TSH Resistance in Pseudoparathyroidism 1A and Obesity

Alimi Aurelia , Rodrigue Danielle , Linglart Agnes , De Filippo Gianpaolo

Introduction: Gsα is imprinted in human thyroid glands and this appears to be important in the development of moderate TSH resistance in pseudohypoparathyroidism (PHP) 1A and less severe TSH resistance in some, but not all, other forms of PHP. Obesity is a clinical condition in which subclinical alterations of thyroid function have been reported, although the relationship between thyroid status and obesity remains unclear. It is uncertain if this biochemical abnormality m...

hrp0082p3-d3-699 | Bone (2) | ESPE2014

Infantile Hypophosphatasia

Slaveska Nevenka , Krstevska-Konstantinova Marina , Zoran Trajkovski

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile hypophosphatasia (IHP) is one of the six recognized clinical forms according to age at presentation, and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the m...