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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

hrp0086p1-p884 | Thyroid P1 | ESPE2016

Clinicopathological Characteristics of Papillary Thyroid Cancer in Children With Emphasis on the Pubertal Status and Association With BRAFV600E Mutation

Poyrazoglu Sukran , Bundak Ruveyde , Bas Firdevs , Darendeliler Feyza

Background: Papillary thyroid cancer (PTC) constitutes more than 90% of the thyroid cancer in children. PTC behaves differently in prepubertal children than in pubertal children and between children and adults. BRAF gene activating mutations lead to PTC by creating aberrant activation. The most common mutation is BRAFV600E.Objective and hypotheses: To evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal st...

hrp0086p1-p885 | Thyroid P1 | ESPE2016

Elevation of Serum Fibroblast Growth Factor 21 in Congenital Hypothyroidism

Yatsuga Shuichi , Sasaki Takako , Ushijima Kikumi , Kitamura Miyuki , Kota Yasutoshi

Background: Fibroblast growth factor 21 (FGF21) is one of the FGF superfamily, which regulates energy expenditure, glucose metabolism and lipid metabolism. FGF21 elevates of glucose uptake in peripheral tissues, and regulates body temperature in brown adipose tissue.Objective and hypotheses: This study is to reveal which endocrine diseases in children has elevation of FGF21.Method: We collected blood from 253 endocrine diseases in ...

hrp0086p1-p886 | Thyroid P1 | ESPE2016

Evaluation of Epicardial AdiposeTissue Thickness in Children Detected Subclinical Hypothyroidism

Aşık Gaye , Ergur Ayca Torel , Şanlı Cihat

Background: Childhood overt hypothyroidism is a chronic disease that affect many system adversely and requires treatment. However, subclinical hypothyroidism (SH),defined obvious cases, impacts on other systems are unknown and there is no common approach to be treated. Moreover, SH may continue for many years, before they become overt hypothyroidism. Cardiovascular system (CVS) is one of the host system, which hypothyroidism adversely affects. Epicardial adipose tissue thickne...

hrp0086p1-p887 | Thyroid P1 | ESPE2016

EEG Alterations are Common in Hashimoto’s Thyroiditis

Boettcher Claudia , Brosig Burkhard , Windhaus Henriette , Kamrath Clemens , Wudy Stefan A. , Hahn Andreas

Background: Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT) is a clinically and electrographically heterogeneous steroid-responsive encephalopathy associated with thyroid autoantibodies.Objective and hypotheses: To investigate, whether children and adolescents with Hashimoto’s Thyroiditis (HT) lacking acute clinical manifestation of SREAT show electroencephalogram (EEG) alterations, and to compare EEGs of HT patients with those...

hrp0086p1-p888 | Thyroid P1 | ESPE2016

“Semi-Hot” Thyroid Nodules Associated with GNAS Mutations in Three Adolescents

Lambert Anne Sophie , Rodrigue Danielle , Papin Jean Francois , Linglart Agnes , Bougneres Pierre

Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

hrp0086p1-p889 | Thyroid P1 | ESPE2016

Evaluation of Body Composition via Bioelectrical Impedance Analysis in Children with Subclinical Hypothyroidism and Effect of LT4 Treatment; Follow-up Results

Gunes Sevinc Odabasi , Ergur Ayca Torel , Kilinc Fatma Nisanci

Background: It’s well known that overt hypothyroidism leads to weight and body fat content increase but there is limited data in the literature about the effect of subclinical hypothyroidism (SH) on body composition parameters.Objective and hypotheses: In our previous study body composition parameters were evaluated in patients with SH and it was concluded that trunk fat mass was increased in SH patients before any alterations in basal metabolism ra...

hrp0086p1-p890 | Thyroid P1 | ESPE2016

The Molecular Causes of Congenital Hypothyroidism: The Scottish experience

Kourime Mariam , Jones Jeremy , Ansari Aisha , Bradley Therese , Mason Avril , Shaikh Guftar

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...

hrp0086p1-p891 | Thyroid P1 | ESPE2016

Newborn Screening Program for Congenital Hypothyroidism: Eighteen Years of Experience in Buenos Aires Province, Argentina

Gonzalez Veronica , Esposito Mariela , Vitale Laura , Morin Analia , Fasano Victoria , Pattin Jorgelina , Celia Ferrari , Mariela Dietz , Gustavo Borrajo , Zulma Santucci , Viviana Balbi

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

hrp0086p1-p892 | Thyroid P1 | ESPE2016

Transient TSH Elevation in Infants Referred on Newborn Screening – Features, Prevalence and Trends

Ouarezki Yasmine , Jones Jeremy , Fitch Moira , Shaikh Guftar , Donaldson Malcolm

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...

hrp0086p1-p893 | Thyroid P1 | ESPE2016

Resolution of Hepatic Hemangiomas and Consumptive Hypothyroidism in an Infant Treated with Propranolol and Levothyroxine

Campbell Victoria , Beckett Rachel , Abid Noina , Hoey Susannah

Infantile hepatic hemangiomas (IHH) particularly the diffuse subtype, can in severe cases be associated with hepatic and cardiac failure, compartment syndrome, and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of longterm sequelae. Thyroid hormones are crucial for growth and neurodevelopment, with three to five IQ points lost for each month hypothyroidism remains untreated in the first year of life. ...

hrp0086p1-p894 | Thyroid P1 | ESPE2016

Comprehensive Analysis of Seven Toll-Like Receptor Genes Including 15 Single-Nucleotide Polymorphisms with Autoimmune Thyroid Disease in Korean Children

Cho Won Kyoung , Jang Jung-Pil , Ahn Moon Bae , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu , Kim Shin Hee , Cho Kyoung Soon , Park So Hyun

Background: The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: Seven Toll-like receptor genes (TLR-1, -2, -3, -4, -5, -6, -9) including 15 single-nucleotide polymor...

hrp0086p1-p895 | Thyroid P1 | ESPE2016

Thyroid Cancer is the Most Frequent Secondary Solid Tumour Following Allogeneic Stem Cell Transplantation in Childhood – A Single Centre Experience

Snajderova Marta , Keslova Petra , Sedlacek Petr , Formankova Renata , Riha Petr , Stary Jan

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

hrp0086p1-p896 | Thyroid P1 | ESPE2016

Iodide Transport Defect: Identification of a Novel Mutation in the Carboxy-terminus of the Sodium/iodide Symporter in a Pediatric Patient with Congenital Hypothyroidism

Nicola Juan Pablo , Martin Mariano , Signorino Malvina , Testa Graciela , Sobrero Gabriela , Munoz Liliana , Masini-Repiso Ana Maria , Miras Mirta

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

hrp0086p1-p897 | Thyroid P1 | ESPE2016

Congenital Hypothyroidism: The Use of a TSH Cut-off Limit of 6mU/L and the ESPE Criteria for LT4 Treatment Leads to the Diagnosis of Mild but mostly Permanent Forms of Hypothyroidism

Gika Anna , Iliadi Alexandra , Platis Dimitris , Giogli Vasiliki , Arditi Jessica , Tzifi Flora , Kyrimis Taxiarchis , Vasilakis Ioannis , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: Since the initiation of neonatal screening programs for Congenital Hypothyroidism (CH) in the 1970’s, a gradual decrease of TSH cut-off limits has been observed worldwide. Nevertheless, lack of universal consensus has led to wide variation of cut-off limits and LT4 therapy criteria among screening programs, even within the same country. The Greek neonatal CH screening program is carried out by a single laboratory that uses one of the lowest cut-off limits worl...

hrp0086p1-p898 | Thyroid P1 | ESPE2016

Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Esposito Andrea , Bravaccio Carmela , Bruzzese Dario , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Peroni Elena , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

hrp0086p1-p899 | Thyroid P1 | ESPE2016

Clinical and Histopathologic Features and Follow-up of Paediatric Patients with Papillary Thyroid Cancer: A 10 Years Experience

de Jesus Zuart Ruiz Roberto , Serrano Bello Carlos Alberto , Sauza Jorge Cortes , Bravo Patricia Medina

Background: The incidence of paediatric papillary thyroid cancer (PTC) is increasing.Objective and hypotheses: To describe the clinical and histopathologic features at diagnosis, and follow-up of paediatric patients with PTC at Children’s Hospital of Mexico in a 10 years period.Method: Comparative longitudinal study. We included 22 paediatric patients with histopathologic diagnosis of PTC between 2004–2014, divided into r...

hrp0086p1-p900 | Thyroid P1 | ESPE2016

Meta-analysis of Children with Multiple Endocrine Neoplasia (MEN) Type 2A from 1995-2014: Impact of RET Mutation Screening on Age at Thyroidectomy and Frequency of Metastatic Disease

Burckhardt Marie-Anne , Zumsteg Urs , Szinnai Gabor

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

hrp0086p1-p901 | Thyroid P1 | ESPE2016

Screening of Congenital Hypothyroidism in Low Birth Weight and Very Low Birth Weight Neonates: A Systematic Review

Hashemipour Mahin , Hovsepian Silva , Ansari Arman , Khalighinejad Pooyan

Background: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation in children, thus screening programs of CH have been established for better management of the disorder and preventing its related neurodevelopmental consequences. Evidences from different screening programs indicated that the rate of CH is higher in pre-term and low birth weight newborns than normal ones due to the incomplete development of hypothalamic–pituitary axis in ...

hrp0086p1-p902 | Thyroid P1 | ESPE2016

Identification of Zinc Transporter ZnT8 in Thyroid Tissues from Children and Adolescents with Thyroid Nodular Hyperplasia

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

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...

hrp0086p1-p903 | Thyroid P1 | ESPE2016

HABP2 as Genetic Susceptibility Factor for Familial Differentiated Thyroid Carcinoma

de Randamie Rajdee , Martos Gabriel , Lumbreras Cesar , Regojo Rita Maria , Mendiola Marta , Argente Jesus , Moreno Jose Carlos

Background: HABP2 is an extra-cellular matrix protein involved in cell proliferation. Recently, HABP2 was proposed as responsible for the familial clustering of Differentiated Thyroid Carcinoma (FDTC). However, its involvement was questioned by subsequent studies revealing high prevalence HAPB2 polymorphisms (SNPs) in the general population, leaving its pathogenic role uncertain.Objective and hypotheses: To identify genetic HABP2</e...

hrp0086p1-p904 | Thyroid P1 | ESPE2016

Cardiac Size and Function in Children with Subclinical Hypothyroidism

Alfano Sara , Arcopinto Michele , Cerbone Manuela , Improda Nicola , Di Mase Raffaella , Ungaro Carla , Salzano Andrea , Cittadini Antonio , Salerno Mariacarolina

Background: The management of subclinical hypothyroidism (SH) is still challenging in particular for mild forms with TSH levels ranging between 4.5 and 10 mU/L.Objective and hypotheses: to compare left ventricular (LV) geometry and function of SH subjects and matched euthyroid controls, and to evaluate the effect of L-thyroxine (L-T4) therapy on cardiac parameters.Method: Thirty-six (36) children (19 females and 17 males), aged 8.6...

hrp0086p1-p905 | Thyroid P1 | ESPE2016

Association of CTLA4, PADI4 and FTO Polymorphisms with Autoimmune Thyroid Diseases in Male Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...

hrp0086p1-p906 | Thyroid P1 | ESPE2016

Thyroid Cancers in Korean Pediatric Populations with Thyroid Nodules

Park So Hyun , Jang Joon Ho , Park Su Jin , Ahn Moon Bae , Kim Sin Hee , Cho Won Kyoung , Cho Kyung Soon , Jung Min Ho , Suh Byung Kyu

Background: South Korea is one of the adequate or excessive iodine nutritional state countries and high-iodine intake is related to papillary thyroid cancer. The prevalence of thyroid cancer of South Korea has increased and the proportion of thyroid papillary cancer has increased as 97.9–98.3% in 2010. Childhood thyroid cancer is rare, and the prevalence of thyroid cancer in pediatric population was reported as 20–26% of thyroid nodules worldwide. However, there have...

hrp0086p1-p907 | Thyroid P1 | ESPE2016

Dysregulation of the Immune System in Children with Graves Disease – the Role of NK and NKT-Like Cells

Klatka Maria , Polak Agnieszka , Grywalska Ewelina , Kollataj Witold , Rolinski Jacek

Background: Almost all cases of hyperthyroidism in children result from Graves’ disease (GD). Recent studies have confirmed a significant role of T cells in the development of autoimmune diseases. However, the interactions between NKT-like cells and NK cells in GD are still poorly understood.Objective and hypotheses: The aim of the study was to assess the frequencies of peripheral blood T, NK and NKT-like cells in children with GD.<p class="abst...

hrp0086p1-p908 | Thyroid P1 | ESPE2016

Thyroid Function Anomalies in Children with Down Syndrome: Early TSH Alteration can Predict Future Hypothyroidism Development?

Mellia Jessica , Ottaviano Giorgio , Deiana Manuela , Marinoni Maddalena , Ragazzo Maria , Salvatoni Alessandro

Background: Subclinical hypothyroidism is a common finding in Down syndrome (DS) patients and transition towards overt hypothyroidism can occur, but there are no predictor factors to identify patients that will need replacement therapy later in life.Objective and hypotheses: This is a retrospective cohort study on a population of DS paediatric patients. This study was designed to evaluate possible early predictive features of hypothyroidism development.<...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0086p1-p910 | Thyroid P1 | ESPE2016

Partial Thyroxine Binding Globulin Deficiency in Test Tube Babies: Cases Report and Literatures Review

Yanlan Fang , Chunlin Wang , Li Liang

Background: Partial thyroxine-binding globulin deficiency (TBG-PD) is an endocrine defect with a prevalence of 1:4 000 in newborns. Due to the presence of a single TBG gene on the X chromosome.Objective and hypotheses: To investigate the clinical characteristics of twins with thyroxine binding globulin deficiency and to find SERPINA7 gene mutations.Method: Data related to clinical characteristics, serum biochemistry, gene mutations...

hrp0086p1-p911 | Thyroid P1 | ESPE2016

Hyperthyroidism after Bone Marrow Transplantation: A Report of Two Cases

Ishiguro Hiroyuki , Hyodo Hiromi , Kato Shunichi

Background: The thyroid dysfunction is one of the frequently seen complications after bone marrow transplantation (BMT). Although hypothyroidism is the most common thyroid disease after BMT, hyperthyroidism is a rare condition. Herein, we report a series of 2 patients who were euthyroid before BMT but developed hyperthyroidism after transplantation.Objective: Case reports and the frequency of hyperthyroidism after BMT in our institute. Case 1:</s...

hrp0086p1-p912 | Thyroid P1 | ESPE2016

A Case of a Young Girl with High Risk RET Mutation Successfully Diagnosed as Medullary Thyroid Carcinoma in Very Early Stage

Abe Yuki , Tsukano Shinya

Background: Multiple Endocrine Neoplasia type 2A (MEN2A) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. MTC shows near complete penetration and its presentation and prognosis highly depend on RET proto-oncogene mutation. To ensure the favorable prognosis in patients with MEN2A, planning surgical intervention for MTC at appropriate timing is important. We herein report a Japanese girl ...

hrp0086p1-p913 | Thyroid P1 | ESPE2016

Nerve Conduction Studies in Children with Subclinical Hypothyroidism

Catli Gonul , Yis Uluc , Tuhan Hale Unver , Ayanoglu Muge , Hiz Semra , Bober Ece , Abaci Ayhan

Background: Although contradictory results regarding neuromuscular functions have been reported in adults with subclinical hypothyroidism (SH), there is no study evaluating neuromuscular functions in children with SH.Objective and hypotheses: To assess neuromuscular functions using nerve conduction studies in children with SH.Method: Twenty-six children (5–18 years) with SH were enrolled in the study. Neuromuscular functions w...

hrp0086p1-p914 | Thyroid P1 | ESPE2016

Van Wyk Grumbach Syndrome with Kocher Smeglaine Debre Syndrome: Case Report of a Rare Association

Syed Mohd. Razi , Gupta Abhinav Kumar , Gupta Deepak Chand , Gupta Keshav Kumar

Background: Van Wyk Grumbach Syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudo-precocious puberty and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debre-Smeglaine Syndrome (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudo-hypertrophy, delayed contraction ...

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...

hrp0086p1-p917 | Thyroid P1 | ESPE2016

Hypercholesterolemia in Two Siblings with THRB Mutation

Jakic Maja , Groselj Urh , Stefanija Magdalena Avbelj , Tansek Mojca Zerjav , Podkrajsek Katarina Trebusak , Battelino Tadej

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....

hrp0086p1-p918 | Thyroid P1 | ESPE2016

Thyroid Autoimmunity and Vitamin D Status in Euthyroid Girls with Hashimoto’s Thyroiditis

Isguven Sukriye Pinar , Aydin Dilek Bingol , Kilic Mukaddes

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...

hrp0086p1-p919 | Thyroid P1 | ESPE2016

Etiology and Severity of Congenital Hypothyroid Children Detected through Neonatal Screening: A Cut-off based Analysis

Vieites Ana , Enacan Rosa , Gotta Gabriela , Junco Marcelo , Ropelato Gabriela , Chiesa Ana

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

hrp0086p1-p920 | Thyroid P1 | ESPE2016

Lowering of the TSH cut-off Limit Substantially Alters Universally Accepted Key Features of Congenital Hypothyroidism. Reconsideration of the Use of FT4 levels for Diagnosis and Treatment

Iliadi Alexandra , Gika Anna , Platis Dimitris , Giogli Vasiliki , Chouliaras Giorgos , Kosteria Ioanna , Kazakou Paraskevi , Apostolaki Despoina , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: The term Congenital Hypothyroidism (CH) describes children with subnormal thyroid hormone levels present at birth. According to literature, CH has an incidence of ~1:1500–1:3000 births with a clear predominance of females (female:male ratio 2:1) and is mainly caused by thyroid dysgenesis (80%). Low FT4 levels have been used as important criteria for CH diagnosis and treatment initiation. The Greek neonatal CH screening program has followed the TSH cut-off lowe...

hrp0086p1-p921 | Thyroid P1 | ESPE2016

Differentiated Thyroid Cancer: Onset and Outcome in a Pediatric Population with and without Risk Factors

Baronio Federico , Monari Fabio , Ortolano Rita , Zagni Paolo , Rizzello Angela , Bettocchi Ilaria , Saggese Domenico , Pession Andrea , Cassio Alessandra

Background: Thyroid nodules (TN) are rare in children but often show more aggressive features than in adults. Irradiated childhood cancer survivors (CCS) are at risk for malignant thyroid nodules.Objective and hypotheses: To retrospectively compare the incidence of differentiated thyroid cancer (DTC), the clinical onset and the medium-term follow-up in a pediatric population (EC <18 years), with and without risk factors examined for TN, among 1990 an...

hrp0086p1-p922 | Thyroid P1 | ESPE2016

Evaluation of the Usefulness of Serum Cytokines IL-1β and sFasL Measurements in the Diagnosis of Autoimmune Hypothyroidism and Hyperthyroidism in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Background: Autoimmune thyroid diseases (AITD) are one of the most common organ-specific autoimmune disorders, of which Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are 2 of the most common clinical expressions. HT is characterized by hypothyroidism (hypoT) that results from the destruction of the thyroid by specific T cell-mediated cytotoxicity. In contrast, GD is characterized by hyperthyroidism (hyperT) induced by thyrotropin receptor-specific stimulatory...

hrp0086p1-p923 | Thyroid P1 | ESPE2016

Small Thyroid Volume on Ultrasound in Infants with Transient TSH Elevation Following Referral by Newborn Screening

Mansour Chourouk , Jones Jeremy , Green Morag , Stenhouse Emily , Irwin Greg , Donaldson Malcolm

Background: Infants referred with elevation of capillary TSH on newborn screening are classified as having transient TSH elevation when subsequently found to have normal venous thyroid function tests off treatment with thyroxine. Causes of transient TSH elevation include neonatal sickness, prematurity and maternal thyroid antibodies. There is little information on thyroid size in such infants.Objective: To determine thyroid volume by ultrasound in infant...

hrp0086p1-p924 | Thyroid P1 | ESPE2016

In Children with Autoimmune Thyroid Diseases the Association with Down syndrome can Modify the Clustering of Extra-Thyroidal Autoimmune Disorders

Aversa Tommaso , Valenzise Mariella , Corrias Andrea , Salerno Mariacarolina , Iughetti Lorenzo , Tessaris Daniele , Capalbo Donatella , Predieri Barbara , De Luca Filippo , Wasniewska Malgorzata

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

hrp0086p1-p925 | Thyroid P1 | ESPE2016

L-selenomethionine Supplementation in Children and Adolescents with Autoimmune Thyroiditis: Preliminary Results of a Randomized Double-blinded Placebo-controlled Clinical Trial

Kyrgios Ioannis , Dimopoulou Aikaterini , Kotanidou Eleni , Kleisarchaki Angeliki , Mouzaki Konstantina , Galli-Tsinopoulou Assimina

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...

hrp0086p1-p926 | Thyroid P1 | ESPE2016

Minimally Invasive Video-Assisted Thyroid Surgery in Children: A Single Center Ten-Years Experience

Ferro Giusy , Martini Ludovica , Ferroli Barbara Baldini , Benevento Danila , Ubertini Graziamaria , Cappa Marco , Lombardi Celestino Pio , Grossi Armando

Background: Improved tools for diagnosis, a higher malignancy risk in thyroid nodules and the referral to surgery in Grave’s disease when medication fails, have lead to increased thyroidectomies in children.Objective and hypotheses: The aim of our study was to evaluate thyroid surgery outcomes and the presence of transient or permanent complications, in a cohort of children who underwent surgery, with the same surgical team, in the last 10 years.</p...

hrp0086p1-p927 | Thyroid P1 | ESPE2016

Prevalence of Congenital Hypothyroidism and Thyroid Function Follow-Up of Children with Tsh Cutoff between 5 and 10 mIU/l in Neonatal Screening

Christensen-Adad Flavia Correa , Mendes-dos-Santos Carolina Taddeo , Goto Maura Mikie Fukujima , Sewaybricker Leticia Esposito , Guerra-Junior Gil , D'Souza-Li Lilia Freire Rodrigues , Morcillo Andre Moreno , Lemos-Marini Sofia Helena Valente

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

hrp0086p1-p928 | Thyroid P1 | ESPE2016

Preliminary Results: Body Composition of Adolescent Patients with Congenital Hypothyroidism and Correlation with Laboratory Parameters

Doulgeraki Artemis , Petrocheilou Glykeria , Polyzois Georgios , Tsoka Eleni

Background: Thyroid dysfunction may predispose to imbalanced body composition.Objective and hypotheses: The aim of the study is to evaluate bone, muscle and fat mass in teenagers with congenital hypothyroidism and correlate their bone profile with laboratory parameters, in an effort to offer more effective lifestyle counselling.Method: Adolescents diagnosed with congenital hypothyroidism through neonatal screening underwent thoroug...

hrp0086p1-p929 | Thyroid P1 | ESPE2016

Neonatal Thyrotoxicosis and Craniosynostosis Associated with Maternal Graves’ Disease and High Dose maternal Thyroxine Therapy for Papillary Carcinoma

Seneviratne Sumudu , Lucus Nishani , Weerasinghe Ashangi

Background: Neonatal Graves’ disease (NGD) occurs in 1–2% pregnancies with maternal Graves’ disease. Thyroid auto-antibodies can persist in the maternal circulation even 10 years after thyroidectomy and can lead to NGD in the absence of maternal thyrotoxicosis. Both maternal stimulating autoantibodies and maternal thyroxine can cross the placenta, and have been implicated in neonatal craniosynostosis.Objective and hypotheses: We report a c...

hrp0086p1-p930 | Thyroid P1 | ESPE2016

Seasonality of Month of Birth in Children and Adolescents with Hashimoto Thyroiditis

Kyrgios Ioannis , Giza Styliani , Kotanidou Eleni , Maggana Ioanna , Galli-Tsinopoulou Assimina

Background: A number of studies have previously described seasonality of birth in children with type 1 diabetes, thus suggesting that the autoimmune process may begin during fetal development. However, there is a lack of data regarding autoimmune thyroid disease in childhood.Objective and hypotheses: The aim of this study was to analyse the seasonal birth month pattern in young patients with Hashimoto thyroiditis and compare it with that of youth healthy...

hrp0086p1-p931 | Thyroid P1 | ESPE2016

Radioiodine Therapy for Graves’ Disease – the Experience of a Portuguese Single Centre

Vicente Nuno , Cardoso Luis , Dias Ines , Serra-Caetano Joana , Cardoso Rita , Dinis Isabel , Costa Gracinda , Barros Luisa , Carrilho Francisco , Mirante Alice

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...