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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p2-551 | Thyroid | ESPE2015

Diagnostic Significance of Serum Concentrations of Osteoprotegerin and Proinflammatory Cytokine IL-1β in Children with Autoimmune Thyroid Disease

Mikos Hanna , Mikos Marcin , Niedziela Marek

Background: Chronic autoimmune thyroiditis (cAIT) leads to hypothyroidism due to T cell-mediated cytotoxicity in most cases. By contrast, Graves’ disease (GD) with thyrotropin receptor stimulatory autoantibodies cause hyperthyroidism. OPG a cytokine receptor which mediates suppressive effect on osteoclastogenesis is a key regulator of inflammation and may be a link between bone, autoimmune disease and vasculature.Objective and hypotheses: Cytokines ...

hrp0084p2-552 | Thyroid | ESPE2015

Even in the Era of Congenital Hypothyroidism Screening Mild and Subclinical Sensorineural Hearing Loss Remains a Relatively Common Complication of Severe Congenital Hypothyroidism

Bruno Rocco , Aversa Tommaso , Catena Mariaausilia , Valenzise Mariella , Messina Maria Francesca , De Luca Filippo , Wasniewska Malgorzata

Background: Only few studies have focused on neurosensory hearing function of patients with congenital hypothyroidism (CH) identified by CH screening programs and treated early and, therefore, this issue remains still controversial.Objective and hypotheses: The aim of this study was to ascertain whether an early and adequate replacement treatment may be able to prevent sensorineural hearing loss in 32 screened children with CH and no associated risk fact...

hrp0084p2-553 | Thyroid | ESPE2015

Efficacy of Supplemental Liothyronine for Patients with Congenital Hypothyroidism and Pituitary Resistance to Thyroid Hormone

Paone Laura , Fleisch Abby F , Feldman Henry , Cappa Marco , Brown Rosalind , Wassner Ari J

Background: Recent guidelines recommend levothyroxine (LT4) monotherapy for all infants with congenital hypothyroidism (CH). However, up to one-third of patients have pituitary resistance to thyroid hormone and, to normalize their TSH, require supranormal circulating levels of T4. Liothyronine (T3) has been proposed as a supplemental therapy for such patients, but data demonstrating its use and efficacy are limited.Object...

hrp0084p2-554 | Thyroid | ESPE2015

Hypoceruloplasminemia as a Marker of Severe Hypothyroidism

Valenzise Mariella , Sferlazzas Concetta , Porcaro Federica , Messina Maria Francesca , Wasniewska Malgorzata , Cinquegrani Maurizio , De Luca Filippo

Background: Hypothyroidism may be also a rare cause of acquired hypoceruloplasminemia. It has recently been underlined a role for thyroid hormone in the normal developmental regulation of ceruloplasmin (cp).Case presentation: A 3-year-old Caucasian girl was admitted to our clinic for recurrent pericarditis, fatigue and muscle weakness. Her family history was remarkable for Hashimoto’s thyroiditis and Graves disease. Her recent personal history was s...

hrp0084p2-555 | Thyroid | ESPE2015

Pituitary Resistance to Exogenous Levothyroxine in Humans

Lacamara Nerea , Escribano Arancha , Guerrero-Fernandez Julio , Barreda Ana Coral , Gonzalez-Casado Isabel , Moreno Jose Carlos

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

hrp0084p2-556 | Thyroid | ESPE2015

Novel PAX8 Mutations in Zhuang Chinese with Congenital Hypothyroidism

Fu Chunyun , Chen Rongyu , Chen Yun

Background: Congenital hypothyroidism (CH) is a condition that characterize by the deficiency in thyroid hormone. CH has a proximate prevalence of one in 4 000 newborns. Major CH cases were reported to be linked with mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes.Objective and hypotheses: The clinical presentation of CH patients caused by PAX8 mutations are variable and PAX8 mutation rates differ significantly among different p...

hrp0084p2-557 | Thyroid | ESPE2015

Potentially Excessive Levothyroxine Doses in Cases of Congenital Hypothyroidism with Eutopic Thyroid Gland

Satoh Hidetoshi , Nagasaki Keisuke , Ogawa Youhei , Saitoh Akihiko

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

hrp0084p2-558 | Thyroid | ESPE2015

Objective vs Subjective Measurement of Thyroid Volume by Ultrasound in Infants Referred with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Attaie Morag , Stenhouse Emily , Pohlenz Joachim , Donaldson Malcolm

Background: Establishing thyroid size as large, normal or small in newborn infants with TSH elevation and in situ thyroid is important for diagnosis and informing molecular genetic studies.Objective and hypotheses: To compare intra-observer variation in the objective (Ox) measurement of thyroid volume (vol) by ultrasound (US); and the correlation between subjective (Sx) and Ox assessment.Method: Joint blinded retrospective...

hrp0084p2-559 | Thyroid | ESPE2015

Central or Primary Hypothyroidism? How to Differentiate in Patients with Low T4 but Mildly Elevated TSH Levels

Turan Serap , Gurbanov Ziya , Bas Serpil , Abali Saygin , Atay Zeynep , Bereket Abdullah

Background: Central hypothyroidism (CH) is caused by TSH and/or TRH deficiency leading to hypothyroxinemia with low, normal or mildly elevated TSH levels. Differentiation of CH with mildly elevated TSH levels from primary hypothyroidism (PH) can be difficult. However, this differentiation has important clinical implications (i.e. cortisol replacement before L-thyroxine).Objective and hypotheses: In this study, we constructed a nomogram all...

hrp0084p2-560 | Thyroid | ESPE2015

A Rare Adverse Effect of Methimazole: Serum Sickness

Akbas Emine Demet , Bideci Aysun , Akin Onur , Yuce Ozge , Doger Esra , Bakirtas Arzu , Camurdan Orhun , Cinaz Peyami

Background: Serum sickness should be considered for the symptoms such as fever, arthralgia and urticaria existing 2–3 weeks after drug administration. Serum sickness is prototype of type 3 hypersensitivity reactions. Nephropathy and vasculitis may occur and main finding is hypocomplementemia. Several drugs such as antibiotics were reported as the reason of serum sickness disease.Objective and hypotheses: According to our knowledge, herein we report ...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

hrp0084p2-562 | Thyroid | ESPE2015

Thyroid Dysfunction is Associated with Biochemical Markers of Non Alcoholic Fatty Liver Disease in Paediatric Population

Loureiro Carolina , Martinez Alejandro , Campino Carmen , Correa Paulina , Mendoza Carolina , Carrillo Diego , Aglony Marlene , Bancalari Rodrigo , Carvajal Cristian , Fardella Carlos , Garcia Hernan , Grob Francisca

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

hrp0084p2-563 | Thyroid | ESPE2015

Nonautoimmune Neonatal Hyperthyroidism due to A633G Mutation in the Thyrotropin Receptor Gene

Jung In Ah , Cho Won Kyoung , Jeon Yeon Jin , Chae Hyo Jin , Kim Myung Shin , Suh Byung Kyu

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

hrp0084p2-564 | Thyroid | ESPE2015

Are Children with Congenital Primary Hypothyroidism Overtreated?

Sechter Claire , Vasseur Francis , Cartigny-Maciejewski Maryse , Gueorguieva Iva , Stuckens Chantal , Weill Jacques

Background: Treatment of congenital primary hypothyroidism (CPHT) fluctuates between two opposite risks for the neuro-cognitive development in a critical window during the neonatal period, under- and over-treatment.Objective: To investigate the relevance of current international recommendations of 10–15 μg/kg per day for L-thyroxine (lT4) doses in CPHT.Method: fT4 and TSH were measured...

hrp0084p2-565 | Thyroid | ESPE2015

Metamorphic Thyroid Autoimmunity in Down Syndrome: From Hashimoto’s Thyroiditis to Graves’ Disease and Beyond

Aversa Tommaso , Valenzise Mariella , Salerno Mariacarolina , Corrias Andrea , Iughetti Lorenzo , Radetti Giorgio , De Luca Filippo , Wasniewska Malgorzata

Background: During the last years, it has been sporadically reported that Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) may follow one another in the same individuals, due to a sequential phenotypic conversion from GD to HT or vice versa.Objective and hypotheses: To shed further light on the specific relationships between Down syndrome (DS) and metamorphic thyroid autoimmunity.Method: We have reconstructed the con...

hrp0084p2-566 | Thyroid | ESPE2015

Analysis of B Regulatory Cells with Phenotype CD19+CD24hiCD27+IL-10+ and CD19+IL-10+ in the Peripheral Blood of Children with Graves’ Disease and Hashimoto’s Thyroiditis

Bossowski Artur , Grubczak Kamil , Singh Paulina , Radzikowska Urszula , Dabrowska Milena , Sawicka Beata , Bossowska Anna , Moniuszko Marcin

Background: Autoimmune thyroid disease (AITD) is the most common organ-specific autoimmune disorder. Genetic background, environmental and endogenous factors are play important roles in determining the activation of immune cells or the efficacy of the immunoregulatory pathways. Recently emphasizes the immunosuppressive role of B regulatory cells (phenotype CD19+CD24hiCD27+IL-10+, CD19+IL-10+) in regulation of immune respon...

hrp0084p2-567 | Thyroid | ESPE2015

Case Report: Resistance of Thyroid Hormone due to a Novel Thyroid Hormone Receptor β-Gene Mutation

Tayfun Meltem , Elmaogullari Selin , Yesilyurt Ahmet , Demirel Fatma

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

hrp0084p2-568 | Thyroid | ESPE2015

Levothyroxine Replacement in Primary Congenital Hypothyroidism: The Higher the Initial Dose the Higher the Rate of Overtreatment

Tuhan Hale , Abaci Ayhan , Cicek Gizem , Anik Ahmet , Catli Gonul , Demir Korcan , Bober Ece

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disorder during neonatal period and delay in diagnosis and treatment leads to irreversible complications. A high L-thyroxine (LT4) dose is recommended for treatment, while the optimal starting dose is still a matter of debate.Objective and hypotheses: The objective of this study was to determine the effects of various starting doses of LT4 on se...

hrp0084p2-569 | Thyroid | ESPE2015

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

Maggio Maria Cristina , Piro Ettore , Alongi Alessandra , Riticella Rita , Salvo Giuseppe , Corsello Giovanni

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

hrp0084p2-570 | Thyroid | ESPE2015

Goitrous Hypothyroidism of Pubertal Onset Caused by a Novel Mutation in DEHAL1 Gene

Schulz Esther , Iglesias Ainhoa , Akkurt Halit Ilker , Helmke Knut , Moreno Jose Carlos

Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...

hrp0084p2-571 | Thyroid | ESPE2015

Mutation Screening of the TSH Receptor Gene in a Cohort of 192 China Patients with Congenital Hypothyroidism

Fu Chunyun , Chen Yun

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlatio...

hrp0084p2-572 | Thyroid | ESPE2015

Mutational Analysis of TSH Receptor and the Clinical Characteristics of Congenital Hypothyroidism

Yu Jeesuk , Lee Seung Ho , Han Kyudong

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...

hrp0084p2-573 | Thyroid | ESPE2015

Characteristics of Delayed TSH Elevation in Neonatal Intensive Care Unit Newborns

Zung Amnon , Yehieli Arie , Almashanu Shlomo

Background: Delayed TSH elevation (dTSH) is defined by normal TSH on the initial neonatal screening followed by elevated TSH on the second screen. Several studies concluded that dTSH is associated with low birth weight (BW) and is mostly transient.Objective and hypotheses: To elucidate clinical characteristics of dTSH in a large cohort of neonatal intensive care unit (NICU) newborns.Method: Clinical data were gathered from a cohort...

hrp0084p2-574 | Thyroid | ESPE2015

Years Follow-Up of Children with Abnormal Newborn Screening Results for Congenital Hypothyroidism: Who Needs Treatment and Who Needs Permanent Treatment?

Kang Min Jae , Shim Young Suk , Oh Yeon Joung , Chung Hye Rim , Yang Seung , Hwang Il Tae

Background: As newborn screening test (NST) became popular, the incidence of congenital hypothyroidism (CH) was raised. But not all CH children require lifelong levothyroxine (LT4) replacement therapy.Objective and hypotheses: We aimed to analyse predicting factors suggesting transient CH (TCH) compared to permanent CH (PCH) or transient thyroid function test (TFT) abnormality who had a positive screening results in our centers for the past de...

hrp0084p2-575 | Thyroid | ESPE2015

Attention Deficit and Sluggish Cognitive Tempo Symptoms in Congenital Hypothyroidism: Results from a Case-Control Study

Esposito Annalisa , D'Acunzo Ida , Di Mase Raffaella , Giudice Ennio Del , Servera Mateu , Salerno Mariacarolina

Background: Despite neonatal screening, children with congenital hypothyroidism (CH) may still display behavioural problems such as inattention, distractibility, hyperactivity and restlessness.Objective and hypotheses: The aim of present study was to evaluate attention and sluggish cognitive tempo (SCT) symptoms in 32 children with CH compared to 32 matched healthy controls.Method: The study population consisted of 32 CH children a...

hrp0084p2-576 | Thyroid | ESPE2015

Relationship between Cord Blood Phthalates and Maternal and Neonatal Thyroid Functions

Ozsoylu Serkan , Akin Leyla , Gunes Tamer , Kendirci Mustafa , Narin Figen , Kurtoglu Selim

Background: Phthalates are industrial chemicals extensively used as plasticizers in a variety of commercial products. Di-(2-ethylhexyl) phthalate (DEHP) is one of the most frequently used phthalates. DEHP is readily metabolized to mono-(2-ethylhexyl) phthalate (MEHP), which is more toxic than its parent compound. There are some animal and in vitro studies suggesting that phthalates can disrupt hypothalamus-pituitary-thyroid axis.Objective and hy...

hrp0084p2-577 | Thyroid | ESPE2015

Osteoprotegerin and fT4 Levels in Subclinical Hypothyroidism of Childhood

Giannakopoulos Aristeidis , Katsantoni Elena , Efthymiadou Alexandra , Kritikou Dimitra , Chrysis Dionisios

Background: Osteoprotegerin (OPG) is a cytokine of the tumour necrosis factor receptor family, expressed in various cells types of the body including osteoblasts and endothelial cells. It acts as a soluble decoy receptor of RANK ligand preventing stimulation of osteoclastogenesis. In adults, subclinical hypothyroidism (SH) has been associated with cardiovascular complications. Furthermore several studies have linked OPG levels to increased cardiovascular risk.<p class="abs...

hrp0084p2-578 | Thyroid | ESPE2015

Cryptorchidism is Commonly Observed in Allan Herndon Dudley Syndrome

Namba Noriyuki , Takakuwa Satoshi , Nakayama Hirofumi , Yamamoto Keiko , Fujiwara Makoto , Ohata Yasuhisa , Kitaoka Taichi , Kubota Takuo , Ozono Keiichi

Background: Allan-Herndon-Dudley syndrome (AHDS) is an x-linked mental retardation syndrome characterized by severe psychomotor retardation and pathognomonic thyroid parameters. Defects in monocarboxylate transporter 8 (MCT8), which facilitates thyroid hormone (TH) uptake and efflux across plasma membranes, have been linked to this disease. The incidence of undescended testes was reported to be 8% by Schwartz et al. On the other hand, we had the impression that cryptorchidism ...

hrp0084p2-579 | Thyroid | ESPE2015

Co-Existence of Thyroid Nodule and Thyroid Cancer in Children and Adolescents with Hashimoto Thyroiditis; A Single-Centre Study

Keskin Meliksah , Savas-Erdeve Senay , Aycan Zehra

Background: There is currently an inadequate number of studies on nodule and malignancy development in children and adolescents with Hashimoto thyroiditis (HT).The aim of our study was to determine the rate of thyroid nodules and the nodule malignancy rate in our pediatric HT patients.Material and methods: Patients who were diagnosed with HT between 2004 and 2013 were included in the study. The HT diagnosis was made with the elevation of anti-TPO and ant...

hrp0084p2-580 | Thyroid | ESPE2015

The Diagnostic, Treatment and Follow-Up Features of Childhood Thyroid Malignancies – A Preliminary Report

Bideci Aysun , Yesilkaya Ediz , Berberoglu Merih , Siklar Zeynep , Darcan Sukran , Ozen Samim , Bas Serpil , Doger Esra , Eren Erdal , Turan Serap , Akinci Aysehan , Demirel Fatma , Simsek Enver , Cetinkaya Semra , Bircan Iffet , Aydin Murat , Bober Ece , Sari Erkan , Hatipoglu Nihal , Tayfun Meltem , Saglam Halil , Ozbek Mehmet Nuri , Yildirim Ruken , Dundar Bumin , Cayir Atilla , Alagoz Engin , Atas Erman

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...