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ea0029oc11.1 | Thyroid Clinical 2 | ICEECE2012

Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor alpha mutation

Schoenmakers N. , Bochukova E. , Agostini M. , Schoenmakers E. , Rajanayagam O. , Keogh J. , Henning E. , Reinemund J. , Gevers E. , Sarri M. , Downes K. , Offiah A. , Albanese A. , Halsall D. , Schwabe J. , Bain M. , Lindley K. , Muntoni F. , Vargha-Khadem F. , Dattani M. , Farooqi S. , Gurnell M. , Chatterjee K.

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

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Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor alpha mutation

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