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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

hrp0089p1-p249 | Thyroid P1 | ESPE2018

Neonatal Screening for Congenital Hypothyroidism: Age-dependent Reference Intervals for Dried Blood Spot TSH in the Neonatal Period

Corbetta Carlo , Angelis Simona De , Rotondi Daniela , Alberti Luisella , Cassini Pamela , Mariani Tiziana , Caiulo Silvana , Vigone Maria Cristina , Weber Giovanna , Olivieri Antonella

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

hrp0089p1-p250 | Thyroid P1 | ESPE2018

Thyroid Scintigraphy in the Diagnosis of Congenital Hypothyroidism

Woth Chris , Banerjee Indi , Hird Beverley , Patel Leena , Tetlow Lesley

Background: Identification of Congenital Hypothyroidism (CH) is an essential part of Newborn Bloodspot Screening (NBS) in the UK. NBS for CH relies on Blood Spot (BS) Thyroid Stimulating Hormone (TSH) measurement in newborns on day 5 of life. Diagnostic confirmation of a screen positive result requires measurement of plasma/serum free thyroxine (fT4) and TSH but technetium thyroid scanning is not mandatory. Technetium-99m scintigraphy can be used to define siz...

hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

hrp0089p1-p252 | Thyroid P1 | ESPE2018

Morning Versus Bedtime Levothyroxine Administration: What is the Choice of Children?

Akin Onur

Aim: The present study compared the administration of levothyroxine (LT4) before breakfast and bedtime in school children diagnosed with hypothyroidism and analyzed the effects of timing on thyroid functioning and patient satisfaction.Methods: A total of 163 children with hypothyroidism (125 females and 38 males) between 8 and 18 years of age and taking LT4 for at least three months were enrolled in the study. The timing of administration of the drug of ...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

hrp0089p1-p254 | Thyroid P1 | ESPE2018

Isolated Congenital Central Hypothyroidism due to a Novel Mutation in TSH Beta Subunit Gene

Kirkgoz Tarik , Ozhan Bayram , Cetin Ozan , Kaygusuz Sare Betul , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

hrp0089p1-p255 | Thyroid P1 | ESPE2018

Patterns of Thyroglobulin Levels in Infants Referred With High TSH on Newborn Screening, Compared with Iodine-sufficient Healthy Controls

Kallali Wafa , Neumann David , Krylova Katerina , Jones Jeremy H. , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

hrp0089p1-p256 | Thyroid P1 | ESPE2018

Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism

Zheng Zhangqian , Lu Wei , Wu Jing , Luo Feihong

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

hrp0089p1-p257 | Thyroid P1 | ESPE2018

Results of the hTPO Mutational Screening in Bulgarian Patients with Congenital Hypothyroidism (CH)

Stoeva Iva , Mihova Kalina , Stoilov Boris , Koleva Reni , Mladenov Wilhelm , Iotova Violeta , Kaneva Radka

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

hrp0089p1-p258 | Thyroid P1 | ESPE2018

Thyroid Hormone Resistance Beta: Eighteen Pediatric Patient Experience

Siraz Ulku Gul , Direk Gul , Akin Leyla , Bircan Rıfat , Tatli Zeynep Uzan , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

hrp0089p1-p259 | Thyroid P1 | ESPE2018

A Novel Mutation of IGSF1 Gene

Sotiridou Ellada , Schoenmakers Nadia , Datta Vipan

Introduction: Mutations in IGSF1 result in X-linked congenital central hypothyroidism, macroorchidism and a variable spectrum of anterior pituitary dysfunction, most commonly including hypoprolactinaemia. We identified a novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) in a 17 year-old adolescent, inherited from his heterozygous mother.Case: A novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) was identified by direct se...

hrp0089p1-p260 | Thyroid P1 | ESPE2018

Multinodular Goiter in Childhood: A Diagnostic Gateway for Screening DICER1 Syndrome

Petit Isabelle Oliver , Grunenwald Solange , Golmard Lisa , Savagner Frederique

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

hrp0089p1-p261 | Thyroid P1 | ESPE2018

A Novel DICER1 Mutation Identified in a Family with the Multinodular Goiter of Children

Nagasaki Keisuke , Shibata Nao , Nyuzuki Hiromi , Sasaki Sunao , Ogawa Yohei , Kogai Takahiko , Hishinuma Akira

Background: Nontoxic multinodular goiter (MNG) is frequently encountered in the general population, but little is known about the underlying genetic susceptibility to this disease. Recently, germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in familial MNG with and without Sertoli-Leydig cell tumor of the ovary.Objective: We reporteda family exhibiting various thyroid diseases in which a ...

hrp0089p1-p262 | Thyroid P1 | ESPE2018

Subclinical Hypothyroidism, Thyroid Nodule or Cyst in Prepubertal Children: How Many Children were Diagnosed at Age 6?

Lee Young Ah , Cho Sun Wook , Lim Youn-Hee , Kim Johanna Inhyang , Kim Bung-Nyun , Hong Yun-Chul , Park Young Joo , Shin Choong Ho , Yang Sei Won

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

hrp0089p1-p263 | Thyroid P1 | ESPE2018

Expression of ZnT8 Transporter in Thyroid Tissues from Patients with Immune and Non-Immune Thyroid Diseases

Bossowski Artur , Reszec Joanna , Polnik Dariusz , Gasowska Marta , Niklinska Wieslawa

Introduction: Zinc homeostasis is regulated by ZnT and Zip zinc transporters. Zinc transporter 8 (ZnT8) is localized in insulin containing secretory granule membrane and transports zinc from the cytosol into the vesicles. ZnT8 was identified on peripheral lymphocytes, in subcutaneous adipose tissue, in a pancreatic β-cells and extra-pancreatic endocrine glands including pituitary, adrenal and thyroid. Autoantibodies to the ZnT8 are detected in the majority of type 1 diabe...

hrp0089p1-p264 | Thyroid P1 | ESPE2018

Thyroid Nodules in a Childhood Cancers Survivors Population: A Monocentric Experience

Peschiaroli Emanuela , Ubertini Graziamaria , Grossi Armando , Ferro Giusy , Martini Ludovica , Paone Laura , De Pasquale Maria Debora , Ferroli Barbara Baldini , Cappa Marco

Thyroid nodules are rare in pediatric age with an incidence of 1.8–3%. However, the risk of thyroid cancer is much higher in the pediatric population compared with adults. Among the pediatric cancer survivors there is an increased risk of developing a secondary malignancy and the thyroid cancers account for about 10% of these secondary tumors. From 2004 to 2017, we have recruited 43 patients (22 females; 21 males) with thyroid nodules among a population who had presented ...

hrp0089p1-p265 | Thyroid P1 | ESPE2018

HLA Alleles and Amino Acid Variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 Molecules in Early-Onset Autoimmune Thyroid Disease

Cho Won Kyoung , Shin Dong Hwan , Kim Seul Ki , Lee Seonhwa , Choi Yujung , Ahn Moonbae , Baek In Cheol , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

hrp0089p1-p266 | Thyroid P1 | ESPE2018

Childhood Thyroid Autoimmunity and Relation to Islet Autoantibodies in Children at Risk for Type 1 Diabetes

Jonsdottir Berglind , Larsson Christer , Jonsson Ida , Lundgren Markus , Larsson Helena

Background: The aim was to determine prevalence and age at seroconversion of thyroid autoimmunity and relation to islet autoantibodies, gender and HLA-DQ genotypes in children followed from birth because of increased genetic risk for type 1 diabetes.Methods: In 1874 10-year-old children followed in the Diabetes Prediction in Skåne (DiPiS) study, blood samples were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), ...

hrp0089p1-p267 | Thyroid P1 | ESPE2018

Evaluation of Serum Concentrations of Selected Cytokines OPG and sRANKL in the Diagnosis of Autoimmune Thyroid Disease in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) is the most common autoimmune disorders in children, associated with induction of inflammation and autoimmunity process. OPG, a cytokine receptor which mediates suppressive effect on osteoclastogenesis and its soluble ligand RANKL (sRANKL) are regulators of inflammation and may be a link between bone, autoimmune disease, and vasculature.Aim of the study: We hypothesized that cytokines OP...

hrp0089p1-p268 | Thyroid P1 | ESPE2018

Analysis of Zinc-Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Michalak Justyna , Rydzewska Marta , Bossowski Artur

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

hrp0089p1-p269 | Thyroid P1 | ESPE2018

The Association between TSHR, IFIH1 and ETV5 Polymorphisms with Graves’ Disease and Diabetes Mellitus Type 1 in Children

Stozek Karolina , Wawrusiewicz-Kurylonek Natalia , Goscik Joanna , Wasniewska Malgorzata , Aversa Tommaso , Corica Domenico , Kretowski Adam , Bossowski Artur

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...