Searchable abstracts of presentations at key conferences in endocrinology
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44th Annual Meeting of the European Thyroid Association (ETA) 2022

Brussels, Belgium
10 Sep 2022 - 13 Sep 2022

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Oral Presentations

Oral Session 8: Basic 2

ea0084op-08-37 | Oral Session 8: Basic 2 | ETA2022

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

Agostini Maura , Pietzner Maik , Marelli Federica , Prapa Matina , Moran Carla , Edward Visser W. , Brown Dave , Thomas Ellen , Schoenmakers Erik , Romartinez-Alonso Beatriz , Scheuplein Rabea , Tylki-Szymanska Anna , Lyons Greta , Watson Laura , Rajanayagam Odelia , Schwedhelm Edzard , F. Hartmann Michaela , Wudy Stefan , Probst Maiken , MacDonald Stephen , Thomas William , Arlt Wiebke , Volker Uwe , M. Main Katharina , Feldt-Rasmussen Ulla , T. Dattani Mehul , Koren Dahll Louise , Demir Korcan , Kara Cengiz , Kirbiyik Ozgur , Mammadova Jamala , Cayır Atilla , Yarali Oguzhan , Phan-Hug Franziska , Sakremath Rajesh , Mohamed Zainaba , Shinawi Marwan , Gill Harpreet , pacaud Daniele , Perrier Renee , Poke Gemma , Hunter Wendy , Douzgou Sofia , Wakeling Emma , Gardham Alice , Lim Derek , Shears Deborah , Freel Marie , Omladic Jasna , Tansek Mojca , Writzl Karin , Farooqi Sadaf , Kopp Peter , Schwabe John , Persani Luca , Chatterjee Krishna

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...

ea0084op-08-38 | Oral Session 8: Basic 2 | ETA2022

Brain effects of combined levothyroxine (T4) and 3-iodothyronamine (T1AM) replacement therapy in a murine model of hypothyroidism

Bertolini Andrea , Ricardi Caterina , Maria Grittani Nicoletta , Ippolito Chiara , Moscato Stefania , Mattii Letizia , Frascarelli Sabina , Chiellini Grazia , Saba Alessandro , Zucchi Riccardo , Rutigliano Grazia

Adult-onset hypothyroidism is associated with cognitive dysfunction, and a significant fraction of hypothyroid patients still shows persistent disturbances despite standard T4 replacement therapy. Experimental results showed that tissue levels of T4 metabolites, particularly T1AM, are decreased in hypothyroidism and remain low after T4 replacement. Thyroid hormones are important for the promotion of neurogenesis and neuron migration to different areas of the cerebral cortex, i...

ea0084op-08-39 | Oral Session 8: Basic 2 | ETA2022

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

Muzza Marina , Gentilini Davide , de Filippis Tiziana , Calzari Luciano , Cristina Vigone Maria , Weber Giovanna , Cassio Alessandra , Olivieri Antonella , Persani Luca

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

ea0084op-08-40 | Oral Session 8: Basic 2 | ETA2022

Disrupted trans-placental thyroid hormone transport in a human model for MCT8 deficiency

Chen Zhongli , Leeuwenburgh Selmar , Zijderveld Wouter , Broekhuizen Broekhuizen M. , Tan Lunbo , Neuman Neuman R.I. , Jongejan Rutchanna , de Rijke Yolanda , K. Reiss Irwin , H. J. Danser Danser A. , Peeters Robin , Meima Marcel , Edward Visser W.

Objectives: During prenatal neurodevelopment, maternal-to-fetal thyroxine (T4) transfer is critical, particularly during the first half of pregnancy when the fetal thyroid gland is immature. Transcellular transport of thyroid hormones (TH) is facilitated by TH transporters. Monocarboxylate transporter 8 (MCT8) is a specific TH transporter that is crucial for transport of TH with a prominent expression at the blood-brain barrier. MCT8 deficiency is a rare disorder consisting of...

ea0084op-08-41 | Oral Session 8: Basic 2 | ETA2022

BOREALIN/CDCA8 is necessary for an adequate thyroid morphogenesis and aging

Dider-Mathon Hortense , Stoupa Athanasia , Kariyawasam Dulanjalee , Ydes Sonny , Cagnard Nicolas , Nitschke Patrick , Scharfmann Raphael , Luton Dominique , Polak Michel , Aurore Carre

Background: Previously, we identified a novel gene, BOREALIN/CDCA8 in congenital hypothyroidism. Patients with BOREALIN mutations had thyroid dysgenesis, from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<...