Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps3-21-08 | Hypothyroidism | ETA2023

Consumptive hypothyroidism in a patient with metastatic melanoma: A case report on a new association

Giordani Ilaria , La Rosa Stefano , Marchiori Deborah , Kopp Peter

Introduction: Consumptive hypothyroidism is a rare condition characterized by the aberrant expression and increased activity of thyroid hormone deiodinase type 3 (DIO3) in neoplastic tissue. This leads to an augmented conversion of thyroxine (T4) to the inactive reverse triiodothyronine (rT3). So far, most cases of consumptive hypothyroidism have been described in infants with hemangiomas.Case presentation: We report the case of a 64-year-old woman with ...

ea0092ps3-30-03 | Thyroid Physiology in Periphery & Development Basic | ETA2023

The human thyroid-derived cl-huthyrecs cell line expresses the thyrotropin (TSH) receptor and thyroglobulin but lacks other essential characteristics of thyroid follicular cells

Halbout Mathias , Ziros Panos , Sykiotis Gerasimos , Kopp Peter

Background: Thyroid hormones are essential for normal development and metabolism. Their synthesis requires a normal function of thyroid follicular cells and adequate nutritional intake of iodine. Immortalized thyroid cell lines are widely used to study thyroid physiology and pathology. The best characterized and most widely used ones include the FRTL5 rat thyroid cell line and a derivative thereof, the PCCL3 cell line. A permanent human thyroid cell line is currently lacking. ...

ea0037ep796 | Pituitary: clinical | ECE2015

Changes in mid-regional pro-atrial natriuretic peptide during thirsting separate patients with diabetes insipidus from those with primary polydipsia

Urwyler Sandrine , Timper Katharina , Fenske Wiebke , Kuhn Felix , Frech Nica , Arici Birsen , Rutishauser Jonas , Kopp Peter , Allolio Bruno , Stettler Christoph , Muller Beat , Katan Mira , Christ-Crain Mirjam

Background: The water deprivation test as the accepted gold standard in the differential diagnosis of polyuria polydipsia syndrome can be associated with a decrease in extracellular fluid volume in patients with diabetes insipidus (DI). We herein evaluated mid-regional pro-atrial natriuretic peptide (MR-proANP) as marker of extracellular body volume in patients with diabetes insipidus compared to primary polydipsia (PP), at baseline and after water deprivation.<p class="ab...

ea0035oc3.2 | Neuroendocrinology &amp; Signalling | ECE2014

Copeptin in the diagnosis and differential diagnosis of diabetes dnsipidus – the ‘CoSIP-study’

Timper Katharina , Fenske Wiebke , Katan Mira , Kuehn Felix , Arici Birsen , Frech Nica , Rutishauser Jonas , Kopp Peter , Allolio Bruno , Stettler Christoph , Mueller Beat , Christ-Crain Mirjam

Introduction: The correct differential diagnosis of the disorders related to polyuria–polydipsia syndrome (PPS) is mandatory since inadequate treatment may lead to serious complications. The diagnostic gold standard is the water deprivation test (WDT) with direct or indirect measurement of plasma vasopressin (AVP). But test interpretation is problematic, and direct measurement of AVP is hampered by methodological difficulties. The aim of this study was to evaluate the dia...

ea0070aep965 | Thyroid | ECE2020

Constitutive activation of Nrf2 antioxidant pathway leads to age-dependent goiter and compensated hypothyroidism in mice

Chartoumpekis Dionysios , Ziros Panos , Renaud Cédric , Bongiovanni Massimo , Habeos Ioannis , Liao Xiao-Hui , Refetoff Samuel , Kopp Peter , Brix Klaudia , Sykiotis Gerasimos

Background: KEAP1 gene (Kelch-like ECH-associated protein 1) that encodes the main inhibitor of nuclear factor erythroid 2-related transcription factor 2 (Nrf2), a central mediator of antioxidant responses, has been found to be one of the mutated genes that lead to familial multinodular goiter (MNG). The proposed association of KEAP1 with familial MNG is based on only two loss-of-function mutations in respective Japanese families. To date, there is no experim...

ea0041gp155 | Pituitary - Clinical | ECE2016

Plasma apelin concentrations in patients with polyuria-polydipsia syndrome

Urwyler Sandrine , Timper Katharina , Fenske Wiebke , de Mota Nadia , Blanchard Anne , Kuhn Felix , Frech Nica , Arici Birsen , Ruthishauser Jonas , Kopp Peter , Stettler Christoph , Muller Beat , Katan Mira , Llorens-Cortes Catherine , Christ-Crain Mirjam

Background: Apelin and arginine-vasopressin (AVP) are antagonists in the regulation of body fluid and osmotic homeostasis. So far there exist no data about apelin levels in patients with polyuria-polydipsia syndrome (PPS).Methods: Plasma apelin and copeptin concentrations were measured in 15 patients with complete central diabetes insipidus (cDI), in seven patients with complete nephrogenic diabetes insipidus (nDI) and 19 patients with primary polydipsia...

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...