hrp0082fc13.6 | Thyroid | ESPE2014

Abnormal Thyroid Hormone Metabolism in Patients with THRA Mutations due to Impaired Expression of the Type 3 Deiodinase

van Gucht Anja , van Mullem Alies , Horn Sigrun , Meima Marcel , Forrest Douglas , van Heerebeek Ramona , Visser Edward , Heuer Heike , Peeters Robin , Visser Theo

Background: Patients with a mutation in the thyroid hormone (TH) receptor TRα1 are characterized by growth retardation, delayed bone development, mild cognitive defects and constipation. They also have abnormal TH levels: low FT4, high T3, and low rT3 levels, suggesting an altered peripheral TH metabolism by deiodinases. The type 3 deiodinase (D3) inactivates TH by catalyzing the degradation of T3. D3 is importantly expressed in...

hrp0082lbp-d3-1016 | (1) | ESPE2014

The Diverse Phenotype of Mutations in T3 Receptor Alpha (TRα)

van Gucht Anja , Demir Korcan , Zwaveling Nitash , Wennink Hanneke , Buyukinan Muammer , Catli Gonul , Dundar Bumin Nuri , Meima Marcel , Visser Edward , van Trotsenburg Paul , Visser Theo , Peeters Robin

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

hrp0084p1-128 | Thyroid | ESPE2015

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor α Mutations

Demir Korcan , van Gucht Anja , Buyukinan Muammer , Catli Gonul , Ayhan Yavuz , Bas Veysel Nijat , Dundar Bumin Nuri , Ozkan Behzat , Meima Marcel E , Visser W Edward , Peeters Robin P , Visser Theo J

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...