hrp0092fc5.6 | Thyroid | ESPE2019

Homozygous Loss-of-Function Mutation in the SLC26A7 Gene Coding a Novel Iodide Transporter Causes Goitrous Congenital Hypothyroidism

Suzuki Atsushi , Ishii Jun , Yoshida Aya , Yamguchi Naoya , Tanaka Tatsushi , Aoyama Kohei , Tateyama Michihiro , Chen I-Shan , Kubo Yoshihiro , Kimura Toru , Yazawa Takuya , Arimasu Yu , Kamma Hiroshi , Saitoh Shinji , Mizuno Haruo

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...

hrp0092p2-67 | Diabetes and Insulin | ESPE2019

Periodontal Disease Among Children and Adolescents with Type 1 Diabetes Mellitus

Babiker Omer , Osuji Oliver , Qudah Mansour , Al Brahim Nahla

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

hrp0092p2-240 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Bone Age Determination in Girls with Early Puberty and Limitations of Adult Height Prediction: Can Automated Evaluation (BoneXpert™)be a Solution?

Yesiltepe-Mutlu Gul , Capaci Merve , Uzunkopru Gizem , Hatun Sükrü

Introduction: One of the factors affecting the treatment decision in early puberty is bone age (BA) evaluation and adult height prediction (AHP), accordingly. These calculations have certain limitations. In this study, we aimed to compare the AHP results calculated by Bayley-Pinneau (BP) and Roche-Wainer-Thissen(RWT) methods based on BA evaluation by using Greulich-Pyle(GP) atlas and BoneXpert™ software.Methods: A t...

hrp0092p2-282 | Thyroid | ESPE2019

Treatment for Graves' Disease in Children and Adolescents: A Long-Term Retrospective Study at a Single Institution

Kim Min-Sun , Song Ari , Park Hyojung , Cho Sung Yoon , Jin Dong-Kyu

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

hrp0092p3-16 | Adrenals and HPA Axis | ESPE2019

Pneumocystis Jiroveci Pneumonitis Complicating Neonatal Cushing's Syndrome - the Therapeutic Dilemma

Auerbach Adi , Gillis David , Megged Orly , Shahroor Sarit , Avnon-Ziv Carmit , Hirsch Harry , Levy-Khademi Floris

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

hrp0092p3-132 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Recurrent Apnea in a Boy Suffering from Congenital Hyperinsulinism in the Course of Diazoxide Treatment

Nowaczyk Jedrzęj , Kucharska Anna

Congenital hyperinsulinism (CHI) is rare disease which prevalence is estimated as 1:2500 to 1:50000 born newborns. Main reason of the disease are genetic mutations in genes responsible for regulation of insulin secretion. First line treatment is diazoxide therapy.Our patient was diagnosed with CHI at the age of 2 months. Biochemical tests prooved diagnosis of CHI. He presented lack of negative feedback and secreted pathologic amount of insulin – dur...

hrp0092p3-183 | Multisystem Endocrine Disorders | ESPE2019

High Demand for Collaborative Work Between Paediatric Endocrinologists in Arab Countries

Alsaffar Hussain , Elawwa Ahmed , Aljaser Fahed , Chaturvedi Deepti , Ehtisham Sarah , Habeb Abdelhadi , Deeb Asma

Introduction: The Middle East and North Africa (MENA) region has witnessed increasing number of researchers over last decade; for example, in-between 2015 and 2016, the number of researchers (in full time equivalent) per 1 million inhabitants was 2.4K in UAE, 1.1K in Morocco, 680 in Egypt, 604 in Qatar and 242 in Oman. Research and Development investment among Arabic countries was the highest in Tunisia, Egypt, Morocco, Saudi Arabia and the United Arab Emirate...

hrp0089rfc10.2 | Late Breaking | ESPE2018

Non-Inferiority Clinical Trial on Gonadotropinversus Pulsatile Gonadotropin-Releasing Hormone Infusion Therapy in Male Adolescent Patient Withcongenital Hypogonadotropic Hypogonadism

Liu Ying , Gong Chunxiu

Context: We investigate the efficacy and safetyof non-inferiority clinical trial for human chorionic gonadotropin/ human menopaousal gonadotropin (HCG/HMG) versus pulsatile gonadotropin-releasing hormone (GnRH) which have not been evaluated in puberty boys with CHH.Objective: To compare the efficacy and security of two different treatments in male adolescent patient with congenital hypogonadotropic hypogonadism (CHH).Methods: For t...

hrp0089p3-p127 | Fat, Metabolism and Obesity P3 | ESPE2018

BigO: Big Data Against Childhood Obesity

Diou Christos , Ioakeimidis Ioannis , Charmandari Evangelia , Kassari Penio , Lekka Irini , Mars Monica , Bergh Cecilia , Kechadi Tahar , Doyle Gerardine , O'Malley Grace , Heimeier Rachel , Lindroos Anna Karin , Sotiriou Sofoklis , Koukoula Evangelia , Guillen Sergio , Lymperopoulos George , Maglaveras Nicos , Delopoulos Anastasios

Background: Childhood obesity is a major global and European public health problem. The need for community-targeted actions has long been recognized, however it has been prevented by the lack of monitoring and evaluation framework, and the methodological inability to objectively quantify the local community characteristics in a reasonable timeframe. Recent technological achievements in mobile and wearable electronics and Big Data infrastructures allow the engagement of Europea...

hrp0089p1-p234 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Pediatricians’ Attitudes and Beliefs towards Transgender Persons

Landau Nitsan , Hamiel Uri , Tokatly Latzer Itay , Mauda Elinor , Levek Noa , Tripto-Shkolnik Liana , Pinhas-Hamiel Orit

Introduction: Pediatricians are becoming key figures for gender dysphoric persons, as the number of children seeking information or treatment for gender dysphoria rises. Puberty suppression and affirming approach, have been shown to improve both psychological functioning and physical outcome. However, recent data show that most children referred were too old to receive this treatment. One barrier that can preclude appropriate care is pediatriciansÂ’ attitudes towards trans...