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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 3

Late Breaking Abstracts

hrp0092p3-265 | Late Breaking Abstracts | ESPE2019

Plasma Asprosin Concentrations are Increased and Associated with Insulin Resistance in Children with Obesity

wang min , xiao yanfeng

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

hrp0092p3-267 | Late Breaking Abstracts | ESPE2019

Indexes of Adiposity and Body Composition in the Prediction of Metabolic Syndrome in Obese Children and Adolescents: Which is the Best

Lupi Fiorenzo , Longhi Silvia , Radetti Giorgio , Fanolla Antonio , Grugni Graziano , Sartorio Alessandro

Objective: There is no agreement about which index of adiposity and/or body composition is the most accurate in identifying the metabolic syndrome (METS). The aim of our study was to compare the accuracy of the different indexes in order to recognize the most reliable.Study Design: We evaluated 1332 obese children and adolescents (778 females and 554 males), aged 14.4 ± 1.8 yrs., Body Mass Index (BMI) standard devia...

hrp0092p3-268 | Late Breaking Abstracts | ESPE2019

Clinical, Laboratory and Radiological Assessment of Obese and Non-Obese Girls Evaluated for Early Puberty

Özalp Kizilay Deniz , Tuhan Hale Ünver

Aim: Although genetic factors are primarily responsible for the etiology of puberty, nutrition and environmental factors are also known to be effective. Obesity is associated with various metabolic complications and affects many aspects of pubertal development such as changes in pubertal hormones and onset of puberty. However, the relationships between these factors are still unclear. It has been reported that overweight and obese children generally have advan...

hrp0092p3-269 | Late Breaking Abstracts | ESPE2019

IGSF1 Mutation: Treatment in the Absence of Symptoms?

Castets Sarah , Vergier Julia , Godefroy Alice , Saveanu Alexandru , Collignon Patrick , Brue Thierry , Reynaud Rachel

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

hrp0092p3-270 | Late Breaking Abstracts | ESPE2019

A Real World, Clinical Experience of Burosumab Therapy in a Cohort of Children with X-Linked Hypophosphataemia

Sandy Jessica , Gilbey-Cross Robyn , Santos Rui , Cocca Alessandra , Sakka Sophia , Morris Mavali , Massey Jill , Cheung Moira

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months in a cohort of 8 children...

hrp0092p3-271 | Late Breaking Abstracts | ESPE2019

Psychosocial Wellbeing of Parents and Quality of Life of Children (Qol) with 46, XY Disorders of Sex Development (DSD) Attending The Endocrine Clinics at Lady Ridgeway Hospital (LRH) for Children

Gangoda Liyanage Dr.Dilusha , De Silva Prof. Shamya , De Silva Prof. Varuni , Atapattu Dr. Navoda , Mahesh Buddhika

Introduction: 46, XY DSD leave lifelong implications on parents and patients. Documented scientific literature on children with 46, XY DSD is scares in Sri Lanka. This study assesses the psychosocial wellbeing of parents and the quality of life in children with 46 XY DSD.Objective: To assess the psychosocial wellbeing of parents and the quality of life in children with 46, XY DSD attending the endocrine clinics at Lady R...

hrp0092p3-272 | Late Breaking Abstracts | ESPE2019

The Effect of Aromatase Inhibitors on Treating Adolescent Boys with Short Stature: A Meta-Analysis of Randomized Controlled Trials

Liu Shufang , Zhou Bo , Zhang Zhixin , Niu Wenquan

Objectives: Recently, aromatase inhibitors are increasingly prescribed as an alternative off-label therapy for short stature in boys, yet its efficiency is controversial. This study aimed to evaluate the effect of aromatase inhibitors on the treatment of short statured boys in adolescence by a comprehensive meta-analysis of published randomized controlled trials.Methods: Literature search, quality assessment and data ext...

hrp0092p3-273 | Late Breaking Abstracts | ESPE2019

Insulin Sensitivity as Homa at Start and End of HGH Treatment of Children with Congenital (C) Ighd and Mphd

Laron Zvi , Shmalia Mona , Kauli Rivka , Lilos Pnina

Background: Patients with congenital IGHD or MPHD develop adiposity already "in utero". The effects of growth hormone (GH) treatment on adipose tissue are controversial, many claiming that GH reduces body fat (1.2). In addition there are reports that long-term GH treatment causes glucose intolerance, insulin resistance, followed in some instances by diabetes (3).Objective: To determine whether long-term hGH treat...

hrp0092p3-274 | Late Breaking Abstracts | ESPE2019

Role of Adiposity Indexes in the Risk of Ketoacidosis (DKA) in Children with Type 1 Diabetes (T1D) at Onset

Castorani Valeria , Pasquarelli Serena , Chiarelli Francesco , Blasetti Annalisa , Mohn Angelika , Giannini Cosimo

Background: DKA is the most serious life-threatening acute complication of T1D. Few data are available evaluating the possible role of anthropadiposity indexes in paediatric DKA in a selected population of prepubertal children. We aimed to identify the possible correlation between adiposity indexes and the presence and severity of DKA at T1D onset.Methods: 195 prepubertal children (84Female/111Male) diagnosed be...

hrp0092p3-275 | Late Breaking Abstracts | ESPE2019

Serum Spexin is Correlated with Lipoprotein(a) and Androgens in Normal-Weight, Overweight and Obese Adolescent Females

Bacopoulou Flora , Apostolaki Despoina , Mantzou Aimilia , Doulgeraki Artemis , Pałasz Artur , Koniari Eleni , Efthymiou Vasiliki

Background: The Spexin gene is considered the most dysregulated in obese human fat with an almost complete absence of expression in obese human fat in comparison with non-obese fat tissues. Limited data from human and animal studies suggest that the novel peptide spexin may potentially impact food intake, weight regulation and body adiposity.Objective: The aim of this study was to compare serum spexin concentrations betw...

hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

hrp0092p3-277 | Late Breaking Abstracts | ESPE2019

The Role of Urine AVP in the Diagnostic Pathway of Polyuria and Polydipsia Syndrome

Giacomozzi Claudio , Lucchini Giuseppe , Teresa Benatti Maria , Silvia Fasoli

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

hrp0092p3-278 | Late Breaking Abstracts | ESPE2019

New Mutation of Gnas in a 2 Year Old Oncological Patient

Ariza Jimenez Ana Belen

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

hrp0092p3-279 | Late Breaking Abstracts | ESPE2019

Relation between Levels of Atymullerian Hormone and Inhibin B and Spontaneous Puberty in Patients with Turner Syndrome – Preliminary Results

Ruszała Anna , Wójcik Małgorzata , Starzyk Jerzy B.

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

hrp0092p3-280 | Late Breaking Abstracts | ESPE2019

Short, but Daily and Controlled Physical Activity of Children with Obesity has a Positive Effect on The Irisin and Chemerin Levels

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Starzyk Jerzy

Therapeutic interventions in obesity in addition to the weight loss, seek to improve the profile of cytokines. It is believed that physical activity, even in the absence of significant weight loss, may favorably increase the concentration of irisin and decrease the concentration of chemerin. The aim of the study was to compare the impact of a standard lifestyle intervention (SI) with an intense intervention (II) including controlled increase of daily physical ...

hrp0092p3-281 | Late Breaking Abstracts | ESPE2019

New Autosomal Dominant Mutation in Glucokinase Gene Causing Congenital Hyperinsulinism Diagnosed in Adulthood

Zalmon-Koren Ilana , Peleg Amir , Sagi-Dain Lena , Harari-Shaham Amalia , Larom Gal , Pouker Iulia , Glaser Ben

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...

hrp0092p3-283 | Late Breaking Abstracts | ESPE2019

Comparison of Densitometric Aspects during the Transition Period in Patients with Congenital and Acquired Pituitary Deficiency: First Argentine Experience

Boquete Hugo , Boquete Carla , Ruibal Gabriela , Suarez Martha , Azaretzky Miriam , Nuñez Chavarria Eleonora , Sequera Ana , Fideleff Hugo

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...

hrp0092p3-284 | Late Breaking Abstracts | ESPE2019

Demographic, clinical and Biochemical Characteristics of Pediatric Obesity: Interim Analysis of a Larger Prospective Study

Tankoska Maja , Jakimovski Dejan , Murtezani Avdi , Stamatova Ana , Maneva Elita , Shukareva-Angelovska Elena , Gjurkova-Angelovska Beti , Koceva Svetlana , Krstevska-Konstantinova Marina , Kuzevska-Maneva Konstandina

Background: Pediatric obesity is the most common nutritional disorder that affects more than a third of the young population and predisposed individuals to greater future morbidity and mortality. Therefore, rising obesity epidemics becomes is becoming one the most important healthcare problems.Methods: In the period of 2017-2018, 62 consecutive pediatric patients referred to the University Pediatric clinic were recruited...

hrp0092p3-285 | Late Breaking Abstracts | ESPE2019

Mental Health of Both Child and Parents Play a Larger Role in Health Related Quality of Life of Obese and Overweight Children

Özalp Kizilay Deniz , Yalin Sapmaz Şermin , Sen Semra , Özkan Yekta , Cengiz Özyurt Beyhan , Ersoy Betül

Aims: A decrease in health-related quality of life (HRQOL) measures among obese and overweight (OB/OW) children has been shown in several studies, but very little is known about the variables affecting HRQOL impairments. The aim of this study was to evaluate the relationship between HRQOL and sociodemographic characteristics, anthropometric measurements, metabolic parameters, mental symptoms and parental attitudes in the sample of OB/OWchildren.<p class="a...

hrp0092p3-286 | Late Breaking Abstracts | ESPE2019

Alterations in Ambulatory Blood Pressure in Adolescents with Obesity

Diaz-Escobar Laura A , Lopez-Gonzalez Desiree , Garibay-Nieto Nayely , Villanueva-Ortega Erendira , Hernandez Ana Maria , Medeiros Mara

Introduction: Obesity is associated with comorbidities such as hypertension (HTN), and other alterations in blood pressure (BP) such as: masked hypertension and alterations in the circadian cycle variability, that only can be detect through ambulatory blood pressure monitoring (ABPM).A higher prevalence of masked hypertension has been reported in obese subjects, up to 4.3%. Also a loss in drop from mean daytime to mean night-time lev...

hrp0092p3-287 | Late Breaking Abstracts | ESPE2019

Should Wereviewclinical Criteria to Diagnose SHOX Gene Mutations?

Gallo Francesco , Lonero Antonella , Moramarco Fulvio

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

hrp0092p3-288 | Late Breaking Abstracts | ESPE2019

Circulating Chemerin may be Associated with Early Vascular Pathology in Obese Children without Overt Arterial Hypertension – Preliminary Results

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Małek Agnieszka , Sztefko Krystyna , Starzyk Jerzy

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...

hrp0092p3-289 | Late Breaking Abstracts | ESPE2019

Quality of Life of Patients with Type 1 Diabetes

Markosyan Renata , Aghajanova Elena , Navasardyan Lusine , Bayburdyan Gayane

The objective of the study was to evaluate the Pediatric Quality of Life (PedsQL) of children from 8-12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand gender and other factors influence on PedsQL and disease management.We conducted a prospective non-randomized cross-sectional study. Children with T1DM were identified from pediatric endocrinology department registries. The onset of diabetes had to be more than 6 months. All con...

hrp0092p3-290 | Late Breaking Abstracts | ESPE2019

Etiologies and Clinical Patterns of Hypopituitarism in Sudanese Children

Hassan Samar , Mukhwana Ranson , Abdullah Mohamed

Background: There is paucity of information regarding etiology and clinical profile of hypopituitarism from populations with high rates of consanguineous marriage like Sudan. We report the first data on etiological factors and clinical profiles of children with hypopituitarism from Sudan. Methodology: This study was a descriptive, hospital based, retrospective study carried out in two major pediatric endocrinology centers in Sudan (Khartoum state) from January...

hrp0092p3-291 | Late Breaking Abstracts | ESPE2019

Rare Causes for Paediatric Virilizing Tumors

Suntharesan Jananie , Atapattu Navoda , Prematilake Dilusha , Hashim Raihana , Gunasekara Buddhi , De silva Dimarsha

Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka....

hrp0092p3-293 | Late Breaking Abstracts | ESPE2019

Clinical Evolution of a Patient with Isolated Growth Hormone Deficiency Type IA Treated with rIGF1 for 5 Years After The Development of GH-antibodies

Feliu Rovira Albert , Latorre Martinez Esther , Porcar Cardona Ines , Escribano Subias Joaquin

Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.Description of the caseWe present a 5-year-...

hrp0092p3-294 | Late Breaking Abstracts | ESPE2019

Beck Depression Inventory Scores for Children with Some Chronic Diseases (Type I Diabetes Mellitus, Sickle Cell Anaemia, and AIDS) in University of Port Harcourt Teaching Hospital

YARHERE IRORO , Jaja Tamunopriye , Anolue Mirabel

Objectives: To determine the presence of depressive disorders in adolescents with T1DM, SCA, and HIV/AIDS being managed in UPTH and to compare the scores between the various diseases.Method: A cohort study of 75 children (20 T1DM, 26 SCA, and 29 HIV/AIDS) presenting to the Department of Paediatrics, UPTH between 1stof October 2018 and 31stof May 2019 had an interviewer administered Beck depression i...

hrp0092p3-295 | Late Breaking Abstracts | ESPE2019

A Novel Pathogenic Mutation of Vitamin-D-Dependent Rickets

Norberto Pin Jacopo , Cossettini Micol , Fabris Francesco , Martelossi Stefano

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

hrp0092p3-296 | Late Breaking Abstracts | ESPE2019

Neonatal Severe Hyperparathyroidism - Using Genetics to Determine Treatment

Avnon Ziv Carmit , Beeri Rachel , Levy-Lahad Ephrat , Aurbach Adi , Levy-Khademi Floris

Background: Disorders of the calcium sensing receptor (CaSR) cause hyper- and hypo- calcemia, depending on the location and type of mutation. Familial hypocalciuric hypercalcemia is a benign disorder in which calcium levels are slightly elevated in the presence of slightly elevated parathyroid hormone (PTH). Neonatal severe hyperparathyroidism (NSHPT) is a rare life-threatening disorder in which there are high levels of calcium accompanied by high levels of pa...

hrp0092p3-297 | Late Breaking Abstracts | ESPE2019

Liver Transplantation in Saudi Homozygous Familial Hypercholesterolemia Patients

Al-Ashwal Abdullah , Al-Mansour Salman , Al-Shagrani Mohammed , Al-Gofi Talal , Breuring Dieter

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

hrp0092p3-298 | Late Breaking Abstracts | ESPE2019

Mitchell-Riley Syndrome, A Report of Novel Mutation in a Palestinian Family Resulting in Neonatal Diabetes

Abu-Libdeh Abdulsalam , Abu-libdeh Bassam

Introduction: Mitchell Riley syndrome is a rare autosomal disorder, characterized by severe neonatal diabetes associated with hypoplastic or annular pancreas, duodenal or jejunal atresia, intestinal malrotation, gallbladder hypoplasia or agenesis, and cholestatic disease, less common features were reported such as severe neonatal anemia, hemochromatosis and biliary atresia.Mitchell-Riley syndrome is caused by a mutation in regulatory fac...

hrp0092p3-299 | Late Breaking Abstracts | ESPE2019

Review of Neonatal Cortisol Evaluation between 2012–2018 in a Single Centre: Trends, Outcomes and Associations

Makaya Taffy , Sarvasiddhi Satish , Menon Smrithi , van Boxel Elizabeth-Jane , Shine Brian

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency. Clinical presentation includes: low blood glucose, low blood pressure, ambiguous genitalia, electrolyte abnormalities, midline abnormalities.Aims: Review the trends, outcomes and associations of cortisol assessment in neonates within our Trust between 2012-2018.Objectives: Review:<p class=...

hrp0092p3-300 | Late Breaking Abstracts | ESPE2019

Height and Upper/Lower Body Ratio in Turner Syndrome Adolescents in Indonesia; Is There any Significant Difference Based on Karyotype?

Novina Novina , Gunardi Hartono , Pulungan Aman B.

2Department of Pediatrics, Faculty of Medicine, University of Indonesia, Jakarta, IndonesiaBackground: Short stature is one of the most common findings in Turner syndrome. There are two types of Turner syndrome based on karyotype: classical and mosaic. It is often marked by the body disproportion and dysmorphic profile of the patients. There are still not many data available regarding upper lower body segment ratio (U/L body s...

hrp0092p3-301 | Late Breaking Abstracts | ESPE2019

A novel heterozygous mutation in the SLC5A2 gene causing mild failure to thrive and subclinical hypoglycemia in a 2-year old girl

Dermitzaki Eleni , Manolakos Emmanouil , Filiousi Fotini , Kleanthous Kleanthis , Papadimitriou Dimitrios T.

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

hrp0092p3-302 | Late Breaking Abstracts | ESPE2019

Cognitive and Learning Performance of Children and Adolescents Cancer Survivors

Mavrea Kalliopi , Efthymiou Vasiliki , Katsibardi Katerina , Roka Kleoniki , Pons Roser , Kattamis Antonis , Bacopoulou Flora

Objective: The aim of this study was to compare the sociodemographic and cognitive profile, the learning performance and symptoms of attention deficit hyperactivity disorder (ADHD) of children and adolescents survivors of pediatric cancer to those of healthy controls.Methods: Thirty survivors of pediatric cancer and thirty age-matched controls (mean age ± SD 11.7 ± 2.7 years, 46.0% boys, 54.0% girls) we...

hrp0092p3-303 | Late Breaking Abstracts | ESPE2019

Hirsutism in Children: Pitfalls and Diagnostic Challenges

Bizerea-Moga Teofana Otilia , Tămăşanu Raluca Corina , Maria Velcelean Alexandra , Brad Giorgiana Flavia , Mărginean Otilia

Introduction: Hirsutism is a condition defined as excessive male-pattern hair growth in females most commonly caused by hyperandrogenism. Polycystic ovary syndrome (PCOS), non-classic adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency and androgen-secreting tumors represent causes of androgen excess. Common features such as hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, and insulin resistance make it hard to distinguish between the first...

hrp0092p3-304 | Late Breaking Abstracts | ESPE2019

Congenital Craniopharyngioma - A Rare Case of Congenital Hypopituitarism

Suntharesan Jananie , Atapattu Navoda , Prematilake Dilusha , Hashim Raihana , Gunasekara Buddhi

Introduction: Hypopituitarism leads to one or more pituitary hormones deficiency. Hypopituitarism can be congenital or acquired. The incidence of congenital hypopituitarism is between 1 in 4000 and 1in 10 000 live births. Children with congenital hypopituitarism may present with hypoglycemia, hyponatremia, shock, micro phallus in males, and later present with growth failure. It can be due to congenital or acquired causes. Adamantinomatous type craniopharingiom...

hrp0092p3-305 | Late Breaking Abstracts | ESPE2019

Combined Surgical and Medical Treatment in an Adolescent with Severe Gynecomastia Due to Excessive Estradiol Secretion: A Case Report

Lee Miseon , Moon JungEun , Woo Ko Cheol , Seok Lee Joon , Dug Yang Jung

Background: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within two years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. There are no guiding recommendations for gynecomastia to date besides the suggestion to consider rapidly growing gynecomastia and brea...

hrp0092p3-306 | Late Breaking Abstracts | ESPE2019

Improvement of Metabolic Control in Children with Type1 Diabetes Using Continuous Glucose Monitoring Devices

Gil-Poch Estela , Roco-Rosa María , Javier Arroyo-Díez Francisco

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

hrp0092p3-307 | Late Breaking Abstracts | ESPE2019

Autoimmune Thyroiditis in Beta Thalassemia Major after the Hematopoietic Stem Cell Transplantation - Case Report

Tankoska Maja , Murtezani Avdi , Jovanovska Anamarija , Miladinova Daniela , Kocheva Svetlana

Introduction: Beta thalassemia is a common genetic disorder in Mediterranean countries. Congenital hypothyroidism is also a condition resulting with deficiency of thyroid hormone in newborn infants. Autoimmune thyroid dysfunction in childhood patients with thalassemia major is uncommon and poorly described. We report a case of a child with two independent diseases - clinical hypothyroidism diagnosed in early childhood, and beta thalassemia major who developed ...

hrp0092p3-308 | Late Breaking Abstracts | ESPE2019

Grave's Disease: What Place in the Child's Hyperthyroidism?

Merad Mohamed Samir , Mohammedi Fatiha , Benouis Amina

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

hrp0092p3-309 | Late Breaking Abstracts | ESPE2019

Vitamin D Status Among Children and Adolescents in an Egyptian Cohort: Can we Predict Vitamin D Deficiency?

Karem Mona , Gamal Heiba Ebtehal , Kamel Noha , Gad Suzan

Background and Aim: Vitamin D plays a crucial role in skeletal and extra-skeletal physiology. It is essential for growth, development and health. It works as a paracrine and autocrine signaling molecule that affects nearly all systems in the body. Vitamin D deficiency (VDD) is prevalent in many countries in all age groups, and may be overlooked due to the variable clinical presentations according to age. This study was conducted to assess vitamin D status amon...

hrp0092p3-310 | Late Breaking Abstracts | ESPE2019

Case Report: Primary Hyperparathyroidism Presenting as a Brown Tumor of Mandible in an Adolescent Girl - An Unusual Presentation with Challenges and Outcome

Manzoor Jaida , Ahmed Saeed , Talat Nabila , Ali Qureshi Abid , Tahir Aisha

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

hrp0092p3-311 | Late Breaking Abstracts | ESPE2019

Serum Calcium, 25(OH) Vitamin D and Bone Alkaline Phosphatase in Children with Epilepsy Receiving Antiepileptic Drugs in University of Port Harcourt Teaching Hospital

Chukwumerije Chidinma , Yarhere Iroro , Alikor Edward

Objective: The aim of this study was to analyse bone mineral status in children with epilepsy, on antiepileptic drugs (AEDs) regimen, using serum calcium, 25 (OH) vitamin D and Bone alkaline phosphatase (BALP) and compare these with age and sex matched controls.Patients and Methods: This was a case - control study, conducted at University of Port Harcourt Teaching Hospital, from September 1 2018 to May 31 2019, with 200 ...

hrp0092p3-312 | Late Breaking Abstracts | ESPE2019

Emotional Status Instability and Body Mass Index as Predictive Markers for Dopamine System Dysfunction Evaluation in Pubertal Age Children

Viazava Liudmila , Solntsava Anzhalika , Zaytseva Elena

Study aim was to create a prognostic algorithm of dopamine system dysfunction in pubertal age children, based on emotional instability markers, depending on body mass index and pubertal periods.Materials and Methods: Study subjects comprised 120 children (11.6 – 17.9 y/o, the 2nd – 5th Tanner stages) from Belarusian population between 2015 and 2017. Emotional status instability sings were obtained using th...

hrp0092p3-313 | Late Breaking Abstracts | ESPE2019

A Case Report of Persistent Hyperinsulinemic Hypoglycemia of Infant

Tran Huyen , Luong Tin

Background: Persistent hyperinsulinemic hypoglycemia of infancy is the most common cause of persistent hypoglycemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms. It is a clinically and genetically heterogeneous disorder, which ranges from life-threatening hypoglycemia presenting on the first day of life to only mildly symptomatic hypoglycemia in a child or adolescent that may be difficult to identify. The treatment of...

hrp0092p3-314 | Late Breaking Abstracts | ESPE2019

Case Report: Hyperglicemic Iperosmolar State in a Obese Prepubertal Girl with Newly Diagnosis of Type 2 Diabetes

Polidori Nella , Giannini Cosimo , Comegna Laura , Chiarelli Francesco , Blasetti Annalisa , Mohn Angelika

A 11years-old Italian severely obese prepubertal female (BMI: 32.4 kg/m2; SDS-BMI: 2.63) was admitted to the emergency department due to worsening dyspnea and chest pain associated with severe polyuria, lethargy and lost weight from (85 kg to 78 kg in 7 days). She has history of severe hypertension treated with amlodipine and bisoprololo and a positive family history of Type 2 diabetes. At admission, she was dehydrated and lethargic, but can be awakened after painful and verba...

hrp0092p3-315 | Late Breaking Abstracts | ESPE2019

Associations between Pituitary Abnormalities and Treatment Response in Children with Growth Hormone Deficiency. First Multicenter Study in Portugal

Diamantino Catarina , Simões Ana Sofia , Borges Catarina , Costa Carla , Pereira Carla , Vieira Paula , Leite Ana Luísa , Monteiro Ana Cristina , Freitas Joana , Martins Sandrina , Bernardo Maria Teresa , Fonseca Marcelo , Mirante Alice

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...

hrp0092p3-316 | Late Breaking Abstracts | ESPE2019

Epidemiological and Socioeconomic CHANGES in the Child Population from Debut DM1 in this 21st Century

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Maria Isabel

Objectives: To demographic, socio-economic and social changes in the population of children who debuted in this century with DM type 1aPatients and Methods: Study patients with Type 1 Diabetes Mellitus from January 2000 to the present. Longitudinal study of global epidemiological, social, demographic and clinical variables and by five-year periods, focusing on the latte at Basque CountryRes...

hrp0092p3-317 | Late Breaking Abstracts | ESPE2019

Body Mass Index and Incident Type 1 Diabetes in Children from Lesser Poland Over an 11 Year Observation Period

Wasyl-Nawrot Barbara , Wójcik Małgorzata , Nazim Joanna , Skupień Jan , Starzyk Jerzy

Background: One of the speculated causes of the decreasing age of onset of type 1 diabetes is the increase in body weight in children. This so-called accelerator hypothesis is, however, controversial. The aim of the study was to test whether younger age of type 1 diabetes onset is associated with higher BMI-SDS at the time of diagnosis.Methods: Retrospective data analysis from medical records of all patients und...

hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0092p3-319 | Late Breaking Abstracts | ESPE2019

Systemic Lupus Erythematosus, Celiac and Hypothyroidism Complicating Type 1 Diabetes: A Rare Tetrad

Jain Rakhi , Kochar Indrapal singh

The association of TIDM and SLE is rather rare, but in the event of occurrence can complicate the course of the other. Genetic predisposition, autoimmunity and viral infections are the main etiopathological factors implicated in the pathogenesis of type 1 diabetes mellitus and an association between TIDM and Celiac disease (CD) has a high incidence. This is probably due the human leukocyte antigen (HLA) DR3- DQ2 and DR4-DQ8 that is common to both the diseases.<p class="abs...

hrp0092p3-320 | Late Breaking Abstracts | ESPE2019

EpiPEG-PreMeb Study: Chemerina Plasmatic and Metabolic Syndrome Relation at SGA Childrens

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Leniz Asier , Fernandez-Quintela Alfredo , Portillo Maria Puy , Macarulla-Arenaza Maria Teresa , Lorente-Blazquez Isabel

The objective of this study has been the analysis of plasma chemistry in a group of children born SGA at the University Hospital of Álava- Txagorritxu and biochemical parameters related to the metabolic syndrome.Material and Methods: In a cohort of 27 subjects sub (13 boys and 14 girls) from the epiPEG-PreMeb study, a blood sample at 3, 12 and 24 months of life it was extracted. Biochemical parameters s and measured by automated and...

hrp0092p3-321 | Late Breaking Abstracts | ESPE2019

Hydrometrocolpos Due to Congenital Adrenal Hyperplasia – A Rare Cause of Bladder Outflow Tract Obstruction in a Female Child

Suntharesan Jananie , Atapattu Navoda , Gunasekara Buddhi , De silva Dimarsha

Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous geni...

hrp0092p3-322 | Late Breaking Abstracts | ESPE2019

Bartter Syndrome Complicated with Growth Hormone Deficiency Due to a Suprasellar Arachnoid Cyst

Hashim Raihana , Atapattu Navoda , Fernando Jerard , Prematilake Dilusha , Gunasekara Buddi , Suntharesan Janani , De Silva Dimarsha

Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter...

hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

hrp0092p3-324 | Late Breaking Abstracts | ESPE2019

Hypoglycemia in a Patient with Turner Syndrome and Kabuki Make-Up

liu ziqin , chen xiaobo , gao kang

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...

hrp0092p3-325 | Late Breaking Abstracts | ESPE2019

45X/47XXX Mosaicism and Progressive Puberty

liu ziqin , chen xiaobo

Objective: To report a case girl with 45X/47XXX mosaic Turner syndrome exhibiting a progressive puberty.Design: Case reportResult: A 9 years 4 months old girl was presented with growth retardation. Chromosome analysis revealed a mosaic karyotype 45X/47XXX. She presented with normal height but much lower than the mid-parental height. During annual check-ups, her growth rate was acce...

hrp0092p3-326 | Late Breaking Abstracts | ESPE2019

Vitamin D and Type 1 Diabetes Mellitus in Children

Adji Tjahjono Harjoedi

Backgrounds: The understanding of the efects and role of vitamin D and its analogues in the functioning of body tissues, systems and organs has improved substantially over the last decade. The potential extra-skeletal role of vitamin D has been a rich area of interest and research over the last decade. Vitamin D deficiency has been implicated in a variety of chronic diseases, including bone mineral disease, autoimmunity, cancer, and diabetes. Many epidemiologi...

hrp0092p3-327 | Late Breaking Abstracts | ESPE2019

Severe Hypercalcaemia After Years on The Ketogenic Diet: A Novel Case Report

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

hrp0092p3-328 | Late Breaking Abstracts | ESPE2019

Estrogen Production by Sertoli Cell Tumor in Unusual Case of Testicular Feminization Syndrome

noorian shahab , aghamahdi fatemeh

A 5-year-old patient was brought by her parents toour pediatric endocrinology Outpatient clinic with history of progressive bilateral breast budding andenlargement since 3 months ago. . Her previous medical history were uneventful; there was no family history of precocious puberty. Parents were married, nonconsanguineous, she has 1 other sibling who is well . At presentation, our patient was a well looking girl, She had a full female phenotype: On initial physical examination ...

hrp0092p3-329 | Late Breaking Abstracts | ESPE2019

Dysphagia and Dyspnea by Lingual Thyroid Mass in a Young Child: What To Do?

Merad Mohamed Samir , Mohammedi Fatiiha , Benouis Amina

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

hrp0092p3-330 | Late Breaking Abstracts | ESPE2019

Van-Wyk Grumbach Syndrome Associated with Trisomy 21: A Case Report

Selim Nihad , Bouchair Nadhira

Introduction: Van-Wyk Grumbach syndrome (VWGS) described in 1960 associate Primary hypothyroidism to early puberty, polycystic ovaries and pituitary adenoma with or without hyperprolactinemia. It is a very rare cause of precocious puberty, which the etiopathogenis is not yet very clear.Observation: We report the case of an 8 year old girl known for trisomy 21, she presented a Primary hypothyroidism treated initially with...

hrp0092p3-331 | Late Breaking Abstracts | ESPE2019

Fahr Syndrome in Young Boy with Hypoparathyroidism

Merad Mohamed Samir , Mohammedi Fatiha , Benouis Amina

Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.Case p...

hrp0092p3-332 | Late Breaking Abstracts | ESPE2019

Thyroid Cancer in a Child with Graves's Disease

Merad Mohamed Samir , Mohammedi Fatiha , Benouis Amina

The association of thyroid carcinoma with Graves' disease is considered rare and remains exceptional because it accounts for only 1-2% of childhood cancers.We report an observation of a 10-year-old girl from a goitrous endemic area (CHLEF) with exophthalmia. It shows signs of obvious thyrotoxicosis with with a very firm, homogeneous and asymmetrical goiter on the right.. A hormonal assessment, an echography and a thyroid scintigraphy confirm the ...

hrp0092p3-333 | Late Breaking Abstracts | ESPE2019

Influence of Nocturnal Hypoglycemia on School Performance of Teens with DM Type1

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Lorente-Blazquez Maria Isabel

It is known that a larger number of blood glucose control, glycemic control of patients with type 1 Dm suffers improvement. Likewise, the presence of hypoglycaemias maintained, especially at night and in school-age patients, could have a significant influence on neurological aspects such as night rest, learning and memory. Improved technology has id allowed or development of control devices interstitial glucose, both blinded (retrospective) as erta abi (real time). The free FR...