Searchable abstracts of presentations at key conferences in endocrinology
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10th European Congress of Endocrinology

Poster Presentations

Paediatric endocrinology

ea0016p578 | Paediatric endocrinology | ECE2008

The prevalence of endocrine complications in patients with thalassemia major

Moaddab Mohammad Hassan , Hashemipour Mahin , Naderi Mahmoud

Background: Frequent blood transfusions and iron overload lead to many complications in patients with -thalassemia major. Endocrine disorders are detected in these patients with a high frequency. Early diagnosis and treatment of these complications could result in improvement of quality of life.Patients and methods: A total of 183 patients with thalassemia major aged between 10 and 22 years old were evaluated for endocrinopathy. Blood samples were taken ...

ea0016p579 | Paediatric endocrinology | ECE2008

The role of thiocyanate in the etiology of residual goiter in Semirom, an iodine replete area

Hashemipour Mahin , Hassanzadeh Keshteli Ammar , Amini Masoud , Aminorroaya Ashraf , Siavash Dastjerdi Mansour , Rezvanian Hassan , Kachoei Ali , Hassan Moaddab Mohammad , Haghighi Sassan

Background: Despite long standing iodine supplementation in Iran the prevalence of goiter remains high in some areas. This may suggest that factors other than iodine deficiency may play a role. In the present we investigated the possible role of thiocyanate (SCN) in the etiology of goiter in Semirom, Iran.Methods: One thousand and eight hundred and twenty-eight schoolchildren (7–13 year-old) were selected by multi stage random sampling. Thyroid size...

ea0016p580 | Paediatric endocrinology | ECE2008

Structural study on the effect of maternal diabetes on fetal endocrine pancreas

Badawoud Mohammed

The effect of maternal diabetes on fetal pancreatic islets was investigated before, however an extensive and detailed quantitative immunocytochemical investigation was not found. Therefore, this investigation was conducted to examine the effect of gestational diabetes on the morphology of fetal rat islets. Sections were stained with anti-insulin (B cells) antibodies and were used for structural study. The absolute number of stained B cells per islet of the diabetic group was n...

ea0016p581 | Paediatric endocrinology | ECE2008

Successful treatment of isolated growth hormone deficiency type 1a with recombinant human growth hormone

Wessel Theda , Schnabel Dirk , Krude Heiko , Gruters Annette

Isolated growth hormone deficiency (IGHD) type 1a is caused by defects of the GH-I gene resulting in severe short stature. Treatment with growth hormone may become ineffective due to significant production of growth hormone antibodies. However, this has only been reported in patients treated with pituitary derived growth hormone. We present five cases with IGHD type 1a successfully treated with recombinant human growth hormone (rhGH).Five patients from f...

ea0016p582 | Paediatric endocrinology | ECE2008

Polyendocrinopathy in children, adolescents and young adults with type 1 Diabetes: results from 23837 patients in the German/Austrian DPV-Wiss-database

Warncke Katharina , Rabl Wolfgang , Hofer Sabine , Wiemann Dagobert , Thon Angelika , Holl Reinhard

Few large-scale multicenter data on additional immune phenomena in patients with type-1 diabetes are available. The DPV initiative aggregates standardized anonymized patient records for quality control and epidemiologic research. This report includes data on 23 837 patients with type-1 diabetes, age <30 years and at least 1 antibody measurement, from 242 specialized centers from Germany and Austria (8012 patients <12 years, 12 866 12–18 years and 2959 patients 18&...

ea0016p583 | Paediatric endocrinology | ECE2008

Comparison of vitamin D status, sun-exposure and personalised UVB-radiation dosimetry of mildly pigmented, breastfed newborns during their first 6-8 weeks of life in Perth, Western Australia and Berlin, Germany

Siafarikas Aris , Hesse Volker , Bulsara Max K , Jones Timothy W

The prevalence of vitamin D deficiency in at-risk groups is rising even in sunny countries. Aim of this study was to compare vitamin D status and effect of vitamin D supplementation of moderate risk (mildly pigmented, WHO skin type 2) breastfed newborns from sunny and temperate climate zones. Newborns in Perth (30°S, group 1:5 male, 6 female) did not receive any vitamin D supplementation, newborns in Berlin (52.5°N, 17 male, 23 female) were randomised into n=2...

ea0016p584 | Paediatric endocrinology | ECE2008

Growth hormone deficient children born small-for-gestational-age need higher than replacement dose of hGH for successful treatment

Peter Ferenc , Luczay Andrea , Solyom Eniko , Gellen Balazs , Niederland Tamas , Felszeghy Eniko , Sagodi Laszlo , Solyom Janos , Muzsnai Agota

Growth hormone deficient (GHD) children born small-for-gestational-age (SGA) receive the same hGH dose as the children born with appropriate weight/length for gestational age (AGA). There are very few data on their lower growth response to the usual GH replacement dose. The aim of this multi-centre retrospective study is to analyse the hGH dose dependency of GHD children with SGA.SGA was defined as a birth weight/length below – 2 SD for gestational ...

ea0016p585 | Paediatric endocrinology | ECE2008

Autosomal dominant hypophosphatemic rickets (ADHR) due to a novel mutation in the FGF23 gene

Clausmeyer Susanne , Jacobi Christoph , Haffner Karsten , Pohl Martin , Schulze Egbert , Raue Friedhelm

Two dominant inherited disorders of phosphate homeostasis, X-linked hypophosphatemia (XLH), and ADHR are known to be caused by inactivating mutations in the PHEX gene or activating mutations in the FGF23 gene (fibroblast growth factor 23), respectively. Both diseases show a similar phenotype with renal phosphate wasting and inappropriately normal or low 1,25-(OH)2-Vitamin D3 serum levels, leading to hypophosphatemic rickets and osteomalacia. The different...

ea0016p586 | Paediatric endocrinology | ECE2008

The role of desmopressin test in the diagnosis of young patients with Cushing's disease

Sartorato Paola , Zulian Elisa , Testa Miranda , Albiger Nora , Brunner Marie Eve , De Marchi Cecilia , Ferasin Sergio , Mantero Franco , Scaroni Carla

In the diagnosis of Cushing’s disease (CD) desmopressin (dDAVP) stimulation test may be a convenient and more readily available alternative to CRH test; however the sensibility and specificity of ACTH response to dDAVP test has been reported in adult patients inferior to CRH test. In childhood patients with CD there are no data for the use of dDAVP test in this clinical setting. We studied 9 patients ranging in age from 11 to 19 years (7 females and 2 males) with a suspec...

ea0016p587 | Paediatric endocrinology | ECE2008

Evaluation of Intergrated [18F]FDOPA–PET/CT for identification of focal forms of Congenital Hyperinsulinism (CHI)

Blankenstein Oliver , Mohnike Klaus , Hussain Khalid , Kuehnen Peter , Barthlen Winfried , Fuechtner Frank , Mohnike Wolfgang

Objective: CHI is the most frequent cause of severe hypoglycaemia in infants. Two distinct anatomical forms have been described which require different therapeutic strategies. We evaluated the predictive value and accuracy of integrated [18F]FDOPA-PET/CT as a new tool in identification of focal lesions in an observational study.Patients and methods: From 2005 to 2007, 73 infants and children from the UK (30) and Germany (42) with CHI were exam...

ea0016p588 | Paediatric endocrinology | ECE2008

Epigenetic defects at GNAS DMRs in PHP-Ia patients lacking coding GNAS mutations

Bondioni Sara , Mantovani Giovanna , Labarile Pamela , de Sanctis Luisa , Peverelli Erika , Lania Andrea , Beck-Peccoz Paolo , Spada Anna

Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end-organ resistance to the action of PTH. The two main subtypes of PHP, PHP type Ia and Ib are caused by heterozygous loss-of-function mutations in GNAS exons 1–13, which encode Gsα, and by methylation defects in the imprinted GNAS cluster, respectively. Individuals affected with PHP-Ia typically show clinical abnormalities referred to as Albright hereditary osteo...

ea0016p589 | Paediatric endocrinology | ECE2008

Hypospadias and micropenis in congenital adrenal hyperplasia: a case study

Fleischer Sandra , Grosz Ute S , Drexler Hjordis HS , Wusthof Achim , Schulte Heinrich M

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases with increased adrenal androgens secretion from the adrenal cortex, characterized by simple virilizing and salt wasting forms. Deficiency of 21-hydroxylase, caused by mutations in the 21-hydroxylase gene (CYP21A2) is the most frequent CAH, accounting for more than 90 percent of CAH cases. Deficiency of 3 beta-Hydroxysteroid-Dehydrogenase Type II is caused by mutations in the <i...

ea0016p590 | Paediatric endocrinology | ECE2008

Increased hyperinsulinism and insulin resistance, and decreased antioxidant defense, in children and adolescents with pre-metabolic versus metabolic syndromes

Dimitrijevic-Sreckovic Vesna , Sreckovic Branko , Colak Emina , Djordjevic Predrag , Canovic Fadil , Vukosavljevic Dragana , Stojanovic Jecka

Background and aims: The aim was to analyze insulin resistance (IR), glycoregulation disorders, lipid status, C-reactive protein (CRP), plasminogen activator inhibitor (PAI-1) and antioxidant defense in children and adolescents with pre-metabolic (Pre-MS) and metabolic (MS) syndromes.Material and methods: The study included 30 obese individuals (age 10–20 years, body mass index (BMI) or waist circumference (WC) ≥90 percentile). Three of the fo...

ea0016p591 | Paediatric endocrinology | ECE2008

Prevalence of obesity and metabolic syndrome among Spanish adolescents

Garcia-Garcia Emilio , Galera Rafael , Gomez-Bueno Sara , Gamez Maria-Dolores , Lopez-Ruzafa Encarnacion , Ruiz-Sanchez Ana , Oliva Patricia , Martin Manuel , Vazquez Angeles , Bonillo Antonio

Purposes: To report the prevalence of obesity, metabolic syndrome (MS) and its related components among adolescents living in the city of Almería (south of Spain). To examine the distribution of HOMA-IR (homeostasis model assessment of insulin resistance).Methods: A total of 373 subjects attending secundary school (aged 12–17 years) participated in a community-based cross-sectional survey. IOTF (International Obesity Task Force) criteria were u...

ea0016p592 | Paediatric endocrinology | ECE2008

Kinetic study of ldl oxidation in female progeny with positive family history of cardiovascular diseases and/or hyperlipidemia

Makedou Kali , Kourtis Anargyros , Hitoglou Areti , Iliadis Christos , Vavatsi-Christaki Norma , Papageorgiou Georgios

Aim: The present study was designed in order to investigate the lipid profile, as well as LDL oxidizability in vitro, of female progeny (girls and young women) with positive family history of cardiovascular diseases (CVD) and/or hyperlipidemia.Patients and methods: In the present study, 30 healthy female subjects were recruited, aged 3 to 30 years old (mean±S.D. 14.4±8.02 years old). These subjects were progeny of families...

ea0016p593 | Paediatric endocrinology | ECE2008

Final height and timing of menarche after treatment for idiopathic central precocious puberty (CPP)

Vlachopapadopoulou Elpis , Thomas Dimitrios , Karachaliou Feneli , Vakaki Marina , Kaldrymidis Philipos , Michalacos Stefanos

In true precocious puberty, the increased gonadal steroid secretion increases height velocity, somatic and psychosocial development, and the rate of skeletal maturation and can lead to short adult height. The aim is to assess the impact of suppression therapy of CPP with triptorelin on final adult height and the timing of menarche and pattern of menstrual cycle post-treatment.Materials and methods: Nineteen girls, with CPP, which had completed at least t...

ea0016p594 | Paediatric endocrinology | ECE2008

The coincidence of Poland syndrome and Turner syndrome

Wikiera Beata , Wojcik Elzbieta , Noczynska Anna

Poland syndrome (PS) is a defect consisting in unilateral deficiency of the pectoralis major muscle and anomaly of the ipsilateral upper limb, usually in the form of syndactyly or synbrachydactyly. The absence of a nipple and the aplasia of a mammary gland are frequently found. The incidence of PS ranges from 1:7000 to 1:100 000.The authors present a 5-year-old girl with a very rare coincidence of PS and Turner syndrome. The child was born after 38 weeks...

ea0016p595 | Paediatric endocrinology | ECE2008

Day profiles of salivary 17-hydroxyprogesterone for the control of glucocorticoid therapy in adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Deutschbein Timo , Unger Nicole , Hauffa Berthold , Mann Klaus , Petersenn Stephan

Introduction: Optimizing glucocorticoid (GC) therapy in patients with congenital adrenal hyperplasia (CAH) remains a challenge. While overdosing may result in Cushing’s syndrome, underdosing is associated with female virilization and adrenal insufficiency. This study evaluated day-profiling of salivary 17-hydroxyprogesterone (17OHP) for the biochemical control of adolescents with CAH due to 21-hydroxylase deficiency.Methods: Twelve patients (4 males...

ea0016p596 | Paediatric endocrinology | ECE2008

The superoxide dismutase and lipid peroxide in children with Down syndrome and congenital heart disease

Wojcik Elzbieta , Barg Ewa , Gromkowska Malgorzata , Maslowska Ewa , Wikiera Beata , Kalita Danuta , Gamian Elzbieta , Turczyn Barbara , Skoczynska Anna

Metabolic disturbances occur more often in patients with Down Syndrome (DS, trisomy 21) than in the health population.Superoxide dismutase (SOD-1), the main enzyme in the antioxidative system, is coded on chromosome 21. Disturbances in the antioxidative system may play a major role in the development of complications of CHD with arterio-venous shunt.The aim was to evaluate the activity of SOD-1 and concentration of LPO in children ...

ea0016p597 | Paediatric endocrinology | ECE2008

New clinical features and detailed genetic analysis of heterozygous 17q12 deletion syndrome, leading to loss of TCF2 and MODY5

Raile Klemens , Wessel Theda , Deiss Dorothee , Mueller Dominik , Horn Denise , Riebel Wolfgang , Ullmann Reinhard , Klopocki Eva , Grueters Annette

Objective: MODY5 is caused by abnormalities in the TCF2 gene encoding the transcription factor HNF1β. We investigated cases of MODY5 for the underlying type of TCF2 anomaly.Case presentations: From 623 children and adolescents with diabetes mellitus followed at our diabetes clinic in 2006, 64 were negative for islet cell autoantibodies (GAD, IA-2, ICA) within the first year of diagnosis and out of these, four patients presented clinica...

ea0016p598 | Paediatric endocrinology | ECE2008

Aspects and features of type 2 diabetes and the metabolic syndrome in obese children and adolescents

Wiegand Susanna , Dannemann Almut , Galler Angela , Wessel Theda , Bickenbach Annika , Gruters Annette

Background: Obesity is a rising problem in developed and developing countries. Currently little is known about prevalence and prognosis of type 2 diabetes and the metabolic syndrome in obese children and adolescents in Europe.Patients and methods: About 491 obese children (mean-age 11.2 years; mean-BMI 30.3 kg/m2) were examined (lipid-profile; blood pressure, insulin-resistance1) and in 102 of them with risk factors for type 2 diabe...

ea0016p599 | Paediatric endocrinology | ECE2008

Autoimmune polyendocrine syndrome type 1 in West Northern France: phenotypic and genotypic description, and use of immunosuppressive therapies

Emmanuelle Proust-Lemoine , Pascale Saugier-Veber , Herve Lefebvre , Jean-Daniel Lalau , Yves Reznik , Lionel Prin , Catherine Cardot-Bauters , Jean-Louis Wemeau

Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomic recessive disease due to AIRE gene mutations, inducing central immune tolerance breakdown. It was poorly known in France.Objectives: To describe clinical and immunological phenotypes, to determine main genotypes in West Northern France (9 millions inhabitants), to identify factors that could influence phenotypes, and to analyse immunosuppressive therapies indications in APS1.<p cl...

ea0016p600 | Paediatric endocrinology | ECE2008

High incidence of obesity and insulin resistance in prepubertal children, born too small for their gestational age

Stawerska Renata , Szalapska Malgorzata , Smyczynska Joanna , Hilczer Mciej , Lewinski Andrzej

Fetal undernutrition is at the base of disorders in the differentiation process of pancreatic beta cells. Abnormal insulin activity leads to restriction of fetal growth and to obesity, insulin resistance and diabetes mellitus type 2 (DM2), either in childhood or adulthood. The aim of the study was to assess the incidence of obesity and insulin resistance in prepubertal children, born with body mass too small for their gestational age (SGA).Material and m...

ea0016p601 | Paediatric endocrinology | ECE2008

Prolactinomas in pediatric age

Matos Ana Catarina , Mota Filipe , Marques Olinda , Antunes Ana , Almeida Rui

Introduction: Prolactinomas are the most common pituitary adenomas in paediatric patients, except in the first decade of life, when ACTH secreting adenomas are more frequent.Objective: Analysis of clinical, diagnostic and therapeutic data of prolactinomas in paediatric age.Methods: Retrospective study of 15 patients whose symptoms began before 18 years of age.Results: In girls, secondary amenorrhea (58.3%) an...

ea0016p602 | Paediatric endocrinology | ECE2008

Molecular genetic analysis of a patient with hyperinsulinism and deafness

Brusgaard Klaus , Albalwi Mohammed , Svargo Lone , Christesen Henrik

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who do not react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia char...

ea0016p603 | Paediatric endocrinology | ECE2008

Insipidus diabetes revealing a chordomas of a skull base in a child

Bensalah M , Ait Abderahmanc S , Kemali Z

Introduction: Chordomas are rare tumours that usually occur in adults, in children since 1923, <100 cases has been reported. It represent few than 5% of these tumours and most frequently develop in the skull base.Para cellar localisation is uncommon, cause hypopituitarism and oculomotor nerves palsy.Chordomas are believed to behave more aggressively than chordomas in adults.Case report: A 14-year-old boy ...