ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.3-10 | Defects in Thyroid Hormone Transport, Metabolism and Action | ESPEYB21

3.10. Resistance to thyroid hormone induced tachycardia in RTH[alpha] syndrome

Dore Riccardo , Watson Laura , Hollidge Stefanie , Krause Christin , Sentis Sarah Christine , Oelkrug Rebecca , Geiszler Cathleen , Johann Kornelia , Pedaran Mehdi , Lyons Greta , Lopez-Alcantara Nuria , Resch Julia , Sayk Friedhelm , Iwen Karl Alexander , Franke Andre , Boysen Teide Jens , Dalley Jeffrey W , Lorenz Kristina , Moran Carla , Rennie Kirsten L , Arner Anders , Kirchner Henriette , Chatterjee Krishna , Mittag Jens

Brief Summary: This study examined resistance to thyroid hormone (TH)-induced tachycardia in patients with Resistance to THα (RTHα). This rare condition is caused by mutations in the TH receptor alpha (TRα1), and leads to hypothyroidism in TRα1-expressing tissues, including the heart. While high doses of thyroxine (T4) are typically used to treat this condition, patients with RTHα do not exhibit the expected increase in heart rate despite overcoming ti...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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