Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das Nichtansprechen auf Schilddrüsenhormon ist eine Erkrankung die auf Mutationen des Schilddrüsenhormonrezeptors beruht. Dies kann die beta- (THRB) oder alpha-Untereinheit (THRA) betreffen. Die Vererbung ist in beiden Fällen autosomal dominant. Bei den Patienten findet sich deutliche erhöhte Schilddrüsenhormonspiegel trotz einer euthyreoten Stoffwechsellage. Auch das TSH ist meist erhöht und befördert das Strumawachstum. Die Patienten fallen meist dadurch auf, dass sie extrem hohe Dosen an Schilddrüsenhormon zur Eindämmung des Strumawachstums benötigen.
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Orphanet article Orphanet ID 97927
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