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ea0028oc1.5 | Young Endocrinologists prize session | SFEBES2012

Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation

Schoenmakers Nadia , Bochukova Elena , Agostini Maura , Schoenmakers Erik , Rajanayagam Odelia , Keogh Julia , Henning Elana , Reinemund Jana , Gevers Evelien , Sarri Margarita , Downes Kate , Offiah Amaka , Albanese Assunta , Halsall David , Schwabe John , Bain Murray , Lindley Keith , Muntoni Francesco , Vargha-Khadem Faraneh , Dattani Mehul , Farooqi Sadaf , Gurnell Mark , Chatterjee Krishna

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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