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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

hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0086rfc11.2 | Thyroid | ESPE2016

The Incidence and Genetic Analysis of Congenital Hypothyroidism in Guangxi, China and the Predictors for Differentiating Permanent and Transient Congenital Hypothyroidism

Fu Chunyun , Chen Shaoke , Zheng Haiyang , Luo Shiyu , Zhang Shujie , Shen Yiping , Gu Xuefan , Fan Xin , Luo Jingsi

Background: The incidence of congnenital hypothyroidism (CH) differs significantly among different ethnicity and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4, it is also helpful for predicting prognosis and alleviating families’ psychological burden.Objective and hypotheses: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Regi...

hrp0086rfc11.3 | Thyroid | ESPE2016

Germline and Somatic DICER1 Mutations in Familial Papillary Thyroid Carcinoma and Multinodular Goiter

Lumbreras Cesar , Chueca Maria Jesus , Arribas Laura , de Randamie Rajdee , Alonso Angel , Fernandez Pilar , Berrade Sara , Anda Emma , Regojo Rita Maria , Mendiola Marta , Moreno Jose Carlos

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

hrp0086rfc11.4 | Thyroid | ESPE2016

Thyroid Function in Monozygotic Twins with Intra-Twin Birth-Weight-Differences

Schulte Sandra , Woelfle Joachim , Bartmann Peter , Schreiner Felix , Plamper Michaela , Wimmer Lioba , Gohlke Bettina

Background: Low birth weight (bw) and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. However, very little is known about the impact on thyroid function.Objective and hypotheses: In a longitudinal study we observed genetically identical twins with intra-twin bw-differences from birth until adolescence to objectify the impact of a lower bw on development and health in later life....

hrp0086rfc11.5 | Thyroid | ESPE2016

Novel Homozygous Mutation in the Sodium/Iodide Symporter (NIS) Gene Highlight by Next Generation Sequencing (NGS) in a Patient with Congenital Hypothyroidism

Petit Isabelle Oliver , Gennero Isabelle , Savagner Frederique

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

hrp0086rfc11.6 | Thyroid | ESPE2016

Falsely TSH and Free Thyroid Hormone Measurements in Pediatric Patients Treated with High Dose of Biotin

Gal Moran , Hemi Rina , Gruber Noah , Sheinvald Sharon , Landau Yuval , Rubinshtein Marina , Kanety Hannah , Pinhas-Hamiel Orit

Background: Immunoassays are subjected to a number of interferences giving abnormal results which may lead to unnecessary investigations and treatment. We present clinical cases in which biotin treatment could be involved in abnormal results of thyroid function tests (TFTs) obtained by immunoassays based on biotinylated antibodies/analogs.Objective and hypotheses: Three infants were admitted to intensive care unit (ICU) during 2015, in Edmond and Lilly S...

hrp0086rfc11.7 | Thyroid | ESPE2016

Secondary Thyroid Cancer among Childhood Cancer Survivors: A Single Institution Experience

Muraca Monica , Bagnasco Francesca , Caruso Silvia , Morsellino Vera , Haupt Riccardo , Cabria Manlio

Background: Childhood cancer survivors (CCS) are at increased risk of developing secondary malignant neoplasms (SMN). Radiotherapy is one of the main risk factors, and secondary thyroid cancers (STC) are likely to occur among irradiated CCS.Objective and hypotheses: To evaluate frequency, characteristics, and of STC in the cohort of CCS treated and in follow-up at the Istituto Giannina Gaslini.Method: Survivors treated between 1975...