Searchable abstracts of presentations at key conferences in endocrinology
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16th European Congress of Endocrinology

Poster Presentations

Paediatric endocrinology

ea0035p793 | Paediatric endocrinology | ECE2014

Effectiveness of GH therapy in children with normal results of GH stimulation tests and with partial GH deficiency is similar and depends on the severity of IGF1I deficiency

Smyczynska Joanna , Stawerska Renata , Lewinski Andrzej , Hilczer Maciej

Introduction: GH therapy in children with normal GH peak in stimulation tests (GHST) is still a matter of discussion. Recently, GH deficiency (GHD) has been defined as secondary IGF1 deficiency (IGFD), however GHST still remain the main procedure in diagnosing GHD.The aim of present study was to compare GH therapy effectiveness in the patients with normal results of GHST (normGH) and with isolated partial GHD (pGHD), with respect to IGF-I secretion befor...

ea0035p794 | Paediatric endocrinology | ECE2014

Inflammation: a risk factor or a consequence of metabolic diseases in obese prepubertal Iraqi children

ElYassin Hedef

Background: Childhood obesity is a condition where excess body fat negatively affects a child’s health or wellbeing. Potential risk factors for cardiovascular diseases (CVD) tend to cluster in childhood and are strongly associated with obesity.High levels of free fatty acids originating from visceral fat reach the liver through the portal circulation and stimulate synthesis of the triglyceride-rich lipoprotein VLDL the resulting elevation in VLDL ca...

ea0035p795 | Paediatric endocrinology | ECE2014

A case of velocardiofacial syndrome with short stature associated with partial GH deficiency

Planton Emilia , Rusu Cristina , Mogos Voichita , Branisteanu Dumitru

Introduction: Velocardiofacial syndrome (VCFS) also known as DiGeorge or chonotruncal anomaly face syndrome, is a rare genetic disease caused by a microdeletion in the long arm of chromosome 22, having a prevalence of approximately 1:7000 to 1:4000. VCFS has a wide spectrum of more than 200 physical manifestations including: cleft palate, heart and facial abnormalities, eye pathology, problems with feeding, including nasal regurgitation, middle-ear infections (otitis media), l...

ea0035p796 | Paediatric endocrinology | ECE2014

Kearn-Sayre syndrome associated with adenohypophysis agenesis: long term follow-up

Guven Ayla , Ozer Isil , Ardagil Aylin

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, together with cardiac conduction defects, muscle abnormalities and endocrinopathies such as growth hormone deficiency (GHD), diabetes and hypoparathyroidism.We present a 2 years 9 months-old boy with clinical and biochemical diagnosis of KSS and GHD. He was referred with failure-to-thrive. He was born at term from healthy...

ea0035p797 | Paediatric endocrinology | ECE2014

A new cause of liver cirrohosis in childhood: Long-term uncontrolled obesity

Guven Ayla , Cam Sabahat , Ardagil Aylin , Ozkanli Seyma

NAFLD has become the most common cause of chronic liver disease in obese children.Two years-one month-old boy admitted to clinic for obesity. Parents were first cousin. Weight was 20 kg (>90p), height was 84 cm (50 p), BMI was 28.34 kg/m2 (>97 p). Physical examination was normal except diffuse hypertrichosis and right kriptoorchidism. On the follow-up, he never lost weight. At 4-years-old, FPG was 112 mg/dl, AST was 67 IU, ALT was 72 I...

ea0035p798 | Paediatric endocrinology | ECE2014

Delayed puberty in a girl with ataxia telangiectasia: Multiple endocrine dysfunctions

Ehlayel Mohamed , Soliman Ashraf , Bedair Said

Introduction: Ataxia telangiectsia (AT) is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with predisposition for infections, cancers, and autoimmune diseases. This case illustrates the affection of endocrine system in the form of hypothyroidism and hyper-gonadotrophic hypogonadism.Case Report: A 14-year-old girl presented to our clinics at Hamad General Hospital, with history of prog...

ea0035p799 | Paediatric endocrinology | ECE2014

Vitamin D assessment in infants with prolonged hospitalisation

Ardeleanu Ioana Sonia , Delia Corina Elena , Berghes Felicia , Padure Adriana , Manda Dana , Caragheorgheopol Andra

Background: Vitamin D deficiency – a common condition in infants without supplementation – leads to a variety of health impairments.Objectives: To assess 25-OH-vitamin D (VD) status in infants with prolonged hospitalisation, without direct exposure to sunlight.Materials and methods: Twenty-two infants (mean age 6 years 3 months), admitted into Recuperation Department of a Children Hospital for nutritional rehabilitation, ...

ea0035p800 | Paediatric endocrinology | ECE2014

Small for gestational age (SGA) children: Results after 3 years of GH therapy

Galesanu Corina , Loghin Andra , Grozavu Ilinka , Condrea Adrian , Ungureanu Didona

Introduction: GH therapy (rhGH) improves growth outcome in children born small for gestational age (SGA). Growth velocity is maximum in the first year of therapy. Early diagnosis and treatment optimizes the final height.Objectives: Evaluation of efficacy and safety profile in the first 3 years of rhGH treatment in ten SGA children.Methods: The study enrolled ten SGA children (6 boys, 4 girls). All patients were given a mean dose of...

ea0035p801 | Paediatric endocrinology | ECE2014

The longitudinal study of replacement therapy of secondary hypothyroidism in newborn with brain damage

Ben-Skowronek Iwona , Wisniowiecka Magdalena

Introduction: Secondary hypothyroidism is observed in children after brain damage. The aim of the study is evaluation of mental development in preterm-born children during replacement therapy with l-thyroxin because the secondary hypothyroidism. Description of methods: The motor and mental development preterm new-borns with secondary hypothyroidism treated with l-thyroxin since the second week of life were compared with the development of preterm new-bor...

ea0035p802 | Paediatric endocrinology | ECE2014

Causes of short stature in endocrinology: about 800 cases

Fedala Soumeya , Haddam Ali el Mahdi , Chentli Farida , Yaker Fetta , Fedala Naziha

Introduction: The causes of short stature are various and their frequency depends on whether we consult in pediatric or endocrinology.Although endocrine pathology is involved in a little <10% of cases, its recognition is important because it leads to a specific treatment that enhances the stature prognosis.Aim: Search etiologies statural delays observed in endocrinology and assess the frequency of GH deficiency.<p class="ab...

ea0035p803 | Paediatric endocrinology | ECE2014

Characteristics of nutritional status in children with alimentary obesity

Solntsava Anzhalika , Zagrebaeva Olga , Volkova Natalia

Objective: To study feeding habits in children of different ages with alimentary obesity compared with normative values.Methods: We compared 3 days food diaries of 98 children with alimentary obesity observed in the Endocrinology Department of University Hospital (Minsk) with nutritional standards of healthy children recommended by Belarusian National Center for Hygiene, Epidemiology and Public Health – control (K). Patients were divided into three ...

ea0035p804 | Paediatric endocrinology | ECE2014

Perinatal risk factors of the development of obesity in children

Solntsava Anzhalika , Zagrebaeva Olga , Dzmitrovich Yauheniya

Aim: To identify perinatal risk factors of the development of simple obesity in adolescence.Methods: We analysed retrospectively 327 histories of development in pubertal children, with the division into two groups: group 1 – 158 obese children (age 14.6±2 years, BMI 33.4±5 kg/m2), group 2 – 169 normal-weight patients (age 12.6±2.2 (P=0.2); BMI 20.5±1.2 kg/m2 (P<0.05)) from the Univ...

ea0035p805 | Paediatric endocrinology | ECE2014

Morbidity dynamics of diabetes in children living in the West region of Belarus

Aksana Kharchanka , Tatsiana Roubuts

Introduction: Diabetes is an urgent medical and social problem. This disease has a prevalence of features of the epidemic, which covers the majority of economically developed countries. Complications of diabetes are the cause of early disability and high mortality of children. Incidence of diabetes among children is significantly different in different countries. The highest incidence rates observed in the Scandinavian countries. Countries with low incidence – Chile, Mexi...

ea0035p806 | Paediatric endocrinology | ECE2014

25-Hydroxyvitamin D concentrations before and in the 1st year of GH treatment in relation to height velocity, IGF-1 and bone age

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

Introduction: The start of GH (rhGH) treatment in children with GH deficiency (GHD) causes a significant increase in bone turnover and increases height velocity. The increase in IGF1 concentrations during rhGH treatment is a marker of the efficiency of treatment. Bone age delay at baseline is related to GHD and is a good predictor of height velocity during treatment. A significant increase in bone turnover during rhGH treatment results in an increased demand for vitamin D. It ...

ea0035p807 | Paediatric endocrinology | ECE2014

Usefulness of ACTH stimulation in the differential diagnosis of precocious pubarche

Santos Maria Joana , Amaral Daniela , Limbert Catarina , Pina Rosa , Lopes Lurdes

Introduction: Nonclassical congenital adrenal hyperplasia (NCCAH) is caused by reduced 21-hydroxylase activity, leading to excessive adrenal androgens and premature pubarche (PP); idiopathic PP (IPP) is its main differential diagnosis. The gold standard for the differential diagnosis is ACTH stimulation test (ST); this test also estimates the adrenal cortisol reserve in NCCAH patients.Objectives: To compare the clinical characteristics and baseline hormo...

ea0035p808 | Paediatric endocrinology | ECE2014

Peculiarities of emotional disorders in children with obesity

Solntsava Anzhalika , Yemelyantsava Tatsiana , Zagrebaeva Olga , Sukalo Alexandr , Mikhno Hanna , Tkachova Yuliya , Konchyts Katsiaryna

Background: Social adaptation difficulty is one of the serious complications in obese children. It manifests with the complex of emotional and behavioral disorders.Aim: To estimate the peculiarities of psychological status, frequency, and severity of depressive disorders in obese children.Methods: We examined 242 children in the in the Endocrinological Department of University Hospital (Minsk); group 1 – 152 obese children (BM...

ea0035p809 | Paediatric endocrinology | ECE2014

Emotional and binge eating disorders in children with severe obesity

Yemelyantsava Tatsiana , Solntsava Anzhalika , Zagrebaeva Olga , Sukalo Alexandr , Mikhno Hanna , Viazava Ludmila , Tkachova Yuliya , Konchyts Katsiaryna

Background: Binge eating (BE) is a common cause of severe paediatric obesity, which develops after the uncontrolled wish of changing the present emotional condition.Aim: To study the phenomenon of BE in the context of emotional disorders in severe obese children.Methods: We examined 88 children with severe obesity (mean±s.d. 11.5±3.4 years; BMI 29.7±5.7 kg/m2) in the Endocrinological Department of Universi...

ea0035p810 | Paediatric endocrinology | ECE2014

Effect of microelement imbalance on the thyroid function in children

Orlova Liliya

Biological significance of microelements depends on concentration and interaction between them. Children are more sensitive to micronutrients imbalance. The aim was to estimate the microelement imbalance influence on the thyroid gland function and physical, mental and intellectual development of the children.Growth and weight were estimated by CDC 2000, psychological status from birth by the skills and speech development, from 8 years by Luscher, Kos, Sc...

ea0035p811 | Paediatric endocrinology | ECE2014

Further molecular characterization of a novel neurodegenerative syndrome associated to a mutation in the Seipin/BSCL2 gene

Araujo-Vilar David , Ruiz-Riquelme Alejandro , Sanchez-Iglesias Sofia , Requena Jesus R

Mutations in the Seipin/BSCL2 gene cause either type 2 congenital generalized lipodystrophy (BSCL) or dominant motor neuron diseases. However, we recently discovered a c.985C>T mutation in the BSCL2 gene that results in a novel fatal neurodegenerative syndrome (celia encephalopathy). This mutation induces an alternative splicing which results in skipping of exon 7 and a reading frame shift (Guillen-Navarro et al. 2013 J Med Genet <strong...

ea0035p812 | Paediatric endocrinology | ECE2014

Pediatric Graves disease: treatment options and prognosis factors

Saraiva Joana , Cardoso Rita , Dinis Isabel , Gomes Leonor , Carrilho Francisco , Mirante Alice

Introduction: Graves’ disease (GD) is the most common cause of hyperthyroidism in children. Therapeutic options available (anti-thyroid drugs, radioactive iodide, and thyroidectomy) are associated with complications and treatment of this age group remains controversial.Objective: To review our experience in the management of pediatric patients with GD.Materials and methods: Retrospective review of 35 children, diagnosed betwee...

ea0035p813 | Paediatric endocrinology | ECE2014

Polycystic ovary syndrome in overweight and obese adolescent girls and its association with insulin resistance and metabolic syndrome

Smetanina Natalija , Valickas Raimondas , Seibokaite Audrone , Verkauskiene Rasa

Background: The prevalence of polycystic ovary syndrome (PCOS) in adolescents is reported up to 38.9%. Obesity is a known risk factor associated with PCOS increasing the risk of metabolic syndrome (MS). Up to 25% of adolescents with PCOS may have derangements in glucose metabolism and insulin resistance (IR).Aim: To evaluate PCOS prevalence in overweight/obese adolescent girls and to assess the association with BMI, MS and IR.Metho...

ea0035p814 | Paediatric endocrinology | ECE2014

Differences in skeletal development and growth in children with Noonan syndrome

Fadur Alina Daniela , Rusu Cristina , Anton Mihaela , Bodescu Ioana , Manolachie Adina , Idriceanu Jeanina , Vasiliu Ioana , Ungureanu Maria-Christina , Mogos Voichita , Vulpoi Carmen

Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).Methods: We reviewed the cases of five children with NS (three boys, two girls, a...

ea0035p815 | Paediatric endocrinology | ECE2014

Short stature and carnitine deficiency: the hidden connection

Bodescu Ioana , Constantinescu Aurora , Alexianu Marilena , Idriniceanu Jeanina , Vasiliu Ioana , Manolachie Adina , Fadur Alina Daniela , Leustean Letitia , Mogos Voichita , Vulpoi Carmen

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...

ea0035p816 | Paediatric endocrinology | ECE2014

Nonalcoholic fatty liver disease in obese children

Prokopowicz Zofia , Matusik Pawel , Malecka-Tendera Ewa

With the increasing prevalence of obesity in children, there is a growing number of its comorbidities as nonalcoholic fatty liver disease (NAFLD).The aim of this study was to evaluate the prevalence of NAFLD in a group of obese patients and to identify additional risk factors for NAFLD development in the examined population.Materials and methods: We examined 88 obese children (41 boys) mean age 14.4 (±2.6) hospitalized in our ...

ea0035p817 | Paediatric endocrinology | ECE2014

Hormone and metabolic profile of diabetic adolescent girls with menstrual disorders

Zachurzok Agnieszka , Gawlik Aneta , Deja Grazyna , Drosdzol-Cop Agnieszka , Malecka-Tendera Ewa

The aim of the study was to evaluate hormonal profile in diabetic adolescent girls with menstrual disorders and compare them to regularly menstruating diabetic and healthy girls.We studied 54 adolescent girls with T1DM treated with intensive and continuous insulin therapy in the chronological age of 15.9±1.3 years and gynecological age of 33.7±16.7 months with the mean HbA1c for the last year 7.4±1.5%. In 18 (33%) girls menstrual disturban...

ea0035p818 | Paediatric endocrinology | ECE2014

Analysis of Th17 cells and IL17, IL23 cytokines in peripheral blood from children with autoimmune thyroid disease

Bossowski Artur , Moniuszko Marcin , Dabrowska Milena , Jeznach Marta , Rusak Malgorzata , Bossowska Anna

Up till now, altered balance of T helper 1 (Th1) and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases suggest a new role for Th17 (T helper 17) cells which have the ability to secrete cytokines: IL17, IL17F, IL21, and IL23. The aim of the study was to estimate the proporcions of circulating CD4+CD161+CD196+ and CD4+IL17+ Th17 cells and serum concentrations of IL...

ea0035p819 | Paediatric endocrinology | ECE2014

Pseudohypoparathyroidism: challenging diagnosis due to autism and epileptic seizures

Idriceanu Jeanina , Rusu Cristina , Bodescu Ioana , Vasiliu Ioana , Manolachie Adina , Fadur Alina Daniela , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age o...

ea0035p820 | Paediatric endocrinology | ECE2014

Anti-oxidation improves in early puberty in normal weight and obese boys, in positive association with exercise stimulated GH secretion

Paltoglou George , Fatouros Ioannis , Valsamakis George , Shina Maria , Avloniti Alexandra , Chantzinikolaou Athanasios , Kambas Antonis , Draganidis Dimitris , Mantzou Aimilia , Papagianni Maria , Kanaka-Gantenbein Christina , Chrousos George , Mastorakos George

Oxidative stress in humans has been associated with obesity. Puberty is a maturation period characterized mainly by changes of the GH and the gonadotrophin hormones secretion. To investigate the possible association of the GH and the hypothalamic–pituitary–gonadal (HPG) axes before and during early puberty, with the pro- and anti-oxidation mechanisms 76 healthy, pre-pubertal normal weight (n=28), pre-pubertal obese (n=11), early pubertal normal weig...

ea0035p821 | Paediatric endocrinology | ECE2014

Molecular findings of three different male under virilization cases with 47,XXY karyotype

Akcay Teoman , Ulucan Korkut

Introduction: Male under virilization is a rare condition mostly due to the mutations of hormones that effect male reproductive tract. One of the most important gene mutations that effect that pathway is the androgen receptor gene (AR) mutations which is located at Xq12 in individuals with 46, XX. In this report, we present the AR and SRD5A2 gene analysis of three different under-virilized patients with 47, XXY karyotype.Methods: Chromo...

ea0035p822 | Paediatric endocrinology | ECE2014

Achondroplasia and neurological complications

Saraoui Fatima , Fedala Soumeya , Haddam Ali el Mahdi , Chentli Farida , Meskine Djamila

Achondroplasia is the most common genetic causes dwarfism. Its prevalence is 1/10 000 à 30 000 birth. it is an autosomal dominant disease associated with the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Aim: Find the frequency of neurological complications and identify scalability.<p ...

ea0035p823 | Paediatric endocrinology | ECE2014

Pediatrics cushing disease: a diagnostic challenge

Santos Maria Joana , Martins Sofia , Antunes Ana , Almeida Rui , Marques Olinda

Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI.Clinical history: A 14-year-old male patient, with short stature, growth arrest after 12 years and weight gain since age of 9. At physical examination, he had mo...

ea0035p824 | Paediatric endocrinology | ECE2014

Metabolic repercussion of growth hormone deficiency in the child and adolescent

Youcef Hafsa Si , Haddam Ali El Mahdi , Fedala Soumeya , Meskine Djamila , Chentli Farida , Yaker Fette

Introduction: GH deficiency cause a short stature in the child. In the adult hood, other complications appear: An increase of cardiovascular mortality due to an atherogenic profil of lipids and glycaemia abnormalies is reportedAim: Search metabolic disorders in children and adolescents presenting GH deficiencyMaterials and Methods: Patients (56 boys, 36 girls) follow up in our consultation for deficit in GH (Diagnosed on clinical a...

ea0035p825 | Paediatric endocrinology | ECE2014

Medication safety study investigating hydrocortisone individually and extemporaneously compounded capsules for paediatric use in congenital adrenal hyperplasia

Kauzor Daniela , Spielmann Sarah , Ross Richard , Blankenstein Oliver , Kloft Charlotte

Background: Treatment outcome with hydrocortisone for congenital adrenal hyperplasia (CAH) in neonates and children is highly variable. As there is no licensed formulation for children <6 years hydrocortisone capsules individually have to be compounded by local pharmacies (dose strength: 0.5–9.5 mg). The aim of this study was to characterise mass and content of these capsules in order to assess medication safety for effective and nontoxic dosing in terms of precision ...