Previous issue | Volume 89 | ESPE2018 | Next issue

57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

Card image cap
ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Multisystem Endocrine Disorders P2

hrp0089p2-p284 | Multisystem Endocrine Disorders P2 | ESPE2018

Endocrine and Metabolic Complications in Children and Adolescents with Sickle Cell Disease: An Italian Cohort Study

Bigi Elena , Bruzzi Patrizia , Palazzi Giovanni , Predieri Barbara , Lucaccioni Laura , Pancaldi Alessia , Lodi Mariachiara , Cellini Monica , Iughetti Lorenzo

Background: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern and the endocrine and metabolic alterations in a cohort of children with SCD and to detect the relationship between...

hrp0089p2-p285 | Multisystem Endocrine Disorders P2 | ESPE2018

Bone Marrow Failure in McCune Albright Syndrome

Wechsung Katja , Lankes Erwin , Kuhnen Peter , Stackelberg Arend von , Schnabel Dirk

Background: A somatic activating GNAS mutation leads to the triad of café au lait macules, fibrous dysplasia and precocious puberty known as Mc Cune Albright Syndrome (MAS). We present a patient with bone marrow failure as a rare non-endocrine complication of MAS.Clinical case: A 2-year-old girl with neonatal giant cell hepatitis, a large right sided café au lait spot and fibrous dysplasia was diagnosed with MAS. The severe polyostotoc fibrous ...

hrp0089p2-p286 | Multisystem Endocrine Disorders P2 | ESPE2018

Final Adult Height, Insulin-Like Growth Factor 1 (IGF-I) Concentration and Endocrine Complications in Adolescents and Young Adults with β-Thalassemia Major (BTM) Who Received Oral Iron Chelation (OIC) in Comparison with Those Who Did Not Use OIC

Soliman Ashraf , Yassin Mohamed , Sanctis Vincenzo De

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

hrp0089p2-p287 | Multisystem Endocrine Disorders P2 | ESPE2018

Endocrine Challenges in Patients with Thalassemia

Haamberg Tanja Christa , Schneider Christine , Rossler Jochen , Fluck Christa E

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...

hrp0089p2-p288 | Multisystem Endocrine Disorders P2 | ESPE2018

Can Oral Iron Chelation Therapies Reduce Endocrine Complications in β-Thalassemia Major Patients?

Rostami Parastoo , Mohsenipour Reyhaneh , Khoshkbarforoshan Mina , Sayarifard Fatemeh , Setoudeh Arya , Safari Alieh , Kompani Farzad

Objective: β-thalassemia major is an autosomal recessive hemoglobinopathy that needs to blood transfusion for the survival of patients with β-thalassemia. Iron overload as a side effect of transfusion causes some endocrine deficiency in these patients. The injectable iron chelators as an only treatment in the past lead to painful among patients. At present, use of oral iron chelator and increase in patients’ compliance has been successful....

hrp0089p2-p289 | Multisystem Endocrine Disorders P2 | ESPE2018

Statural Growth and Endocrinopathies in Relation to Liver Iron Content (LIC) and Insulin-Like Growth Factor 1 (IGF-I) Concentration in Adolescents with Beta Thalassemia Major (BTM) and Sickle Cell Disease (SCD)

Soliman AShraf , Yassin Mohamed , Sanctis Vincenzo DE , Moustafa Abbas , Samaan Sandra Abou , Nashwan Abdulqadir

We evaluated growth parameters and endocrine disorders in relation to the quantity of liver iron (LIC) measured by the Ferriscan method and insulin-like growth factor 1 (IGF-I) level in a cohort of adolescents with sickle cell disease (SCD) (n=40) and beta thalassemia major (BTM) (n=52) receiving nearly the same protocol of transfusion and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl ...

hrp0089p2-p290 | Multisystem Endocrine Disorders P2 | ESPE2018

Successful Treatment of Severe Atopic Dermatitis with Calcitriol and Paricalcitol in an 8-Year Old Girl

Bothou Christina , Alexopoulos Alexis , Dermitzaki Eleni , Kleanthous Kleanthis , Papadimitriou Anastasios , Mastorakos George , Papadimitriou Dimitrios T

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of...

hrp0089p2-p291 | Multisystem Endocrine Disorders P2 | ESPE2018

Hypoglycemia in Adolescence as the Presenting Sign of Familial MEN1

Justine Bailleul , Natacha Bouhours-Nouet , Valentine Suteau , Maryam Azgal , Marie-Neige Campas , Aurelie Donzeau , Regis Coutant

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. Penetrance increases with age. It combines mainly hyperparathyroidism, adenomas of the pancreas and pituitary gland. The prevalence is about 2/100 000. Diagnosis in children is rare except in the case of family screening. We report the diagnosis of a familial MEN1 whose index case was an adolescent girl investigated because of hypoglycae...

hrp0089p2-p292 | Multisystem Endocrine Disorders P2 | ESPE2018

Aldosterone, Renin, Sodium and Potassium Excretion in Normotensive Prepubertal Children

Martinez-Aguyo Alejandro , Poggi Helena , Campino Carmen , Peredo Soledad , Baudrand Rene , Carvajal Cristian , D'Apremont Ivonne , Moore Rosario , Solari Sandra , Allende Fidel , Fardella Carlos

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...

hrp0089p2-p293 | Multisystem Endocrine Disorders P2 | ESPE2018

What is the Impact of a Structured Healthcare Pathway Dedicated to Patients in Transition on Their Long-term Follow-up?

Menesguen Florence , Tejedor Isabelle , Malivoir Sabine , Faucher Pauline , Halbron Marine , Popelier Marc , Leger Juliane , Netchine Irene , Polak Michel , Bruckert Eric , Poitou Christine , Touraine Philippe

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

hrp0089p2-p294 | Multisystem Endocrine Disorders P2 | ESPE2018

British Society for Paediatric Endocrinology and Diabetes Peer Review of Specialised Paediatric Endocrinology Services in the UK - Evaluation of the Process

Schulga John , Mitchell Heather , Musson Pauline , Shaw Nick , Patel Leena

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

hrp0089p2-p295 | Multisystem Endocrine Disorders P2 | ESPE2018

Paediatric Endocrinology Mapping and Services in Nigeria: A Decade After

Yarhere Iroro , Jaja Tamunopriye

Background: With the inception of the Paediatric endocrinology training centre for Africa and West Africa a decade ago, several endocrinologists have been trained and are practicing in various part of Africa and Nigeria. The services and challenges faced are articulated in this survey.Objective and hypothesis: To determine the service delivery and challenges faced by paediatric endocrinology units in Nigeria.Method: A self-administ...

hrp0089p2-p296 | Multisystem Endocrine Disorders P2 | ESPE2018

The Impact of Military Conflict in the East of Ukraine on the Physical Development of Children and Adolescents

Turchina Svetlana , Kostenko Tatyana

Background: The negative effect of military conflicts on the health of the child population is a proven fact. The consequences of modern military conflicts for the physical development of children are practically not studied.The aim: Of the study is to assess the nature of the physical development of children affected by the military conflict in the East of Ukraine.Materials and methods: At the 179 girls and 128 boys aged 6–18...

hrp0089p2-p297 | Multisystem Endocrine Disorders P2 | ESPE2018

Polycystic Ovary Syndrome Metabolic Syndrome Predisposition in Puberty

Geronikolou Styliani , Bacopoulou Flora , Chryssanthopoulos Stavros , Cokkinos Dennis

This case control study aims at investigating the cardiovascular profile of Greek adolescents suffering from polycystic ovary syndrome (PCOS) by comparing them with age- and body mass index (BMI)- matched non-PCOS controls. Nineteen PCOS patients and eighteen non-PCOS controls (aged 13 to 23 years) were studied for: (i) bioreflex sensitivity (BRS), as a marker of cardiac function, (ii) carotid pulse pressure (PP) and subendocardial viability ratio (SEVR), as markers of arteria...

hrp0089p2-p298 | Multisystem Endocrine Disorders P2 | ESPE2018

Fanconi-Bickel Syndrome in Sudanese Children, Case Series

SA Elhassan , AM Arabi , MA Abdullah , FH Sansbury

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

hrp0089p2-p299 | Multisystem Endocrine Disorders P2 | ESPE2018

The N309K Pro-Protein Convertase Type 1 (PCSK1) Gene Mutation Causes Lack of Spontaneous Puberty and Primary Amenorrhea

Abdulhag Ulla Najwa , Sharaf Mona , Libdeh Abdulsalam Abu , Zangen David

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

hrp0089p2-p300 | Multisystem Endocrine Disorders P2 | ESPE2018

Somatostatin Experiment in Prohormone Convertase Deficiency

Eğritaş Odul , Uğurlu Aylin Kılınc , Doğer Esra , Demet Akbaş Emine , Bideci Aysun , Dalgıc Buket , Camurdan Orhun , Cinaz Peyami

Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple ...