ESPE Abstracts

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...

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...

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 ...

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....

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...

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...

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...