Lightning Strikes Twice: Thyroid Hormone Resistance Beta and Normophosphatemic Familial Tumoral Calcinosis in a Single SubjectAmanda J Brahm, MD
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart. Surprisingly, we report that treatment of RTHα patients with thyroxine to overcome tissue hormone resistance...
Thyroid Hormone Resistance refers to a group of syndromes characterized by reduced responsiveness of the body's organs to thyroid hormones, leading to elevated thyroid hormone levels despite normal or slightly high serum TSH levels. AI generated definition based on: Reference Module in Biomedical Scienc...
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid 31, 1127–1134 (2021). Article CAS PubMed PubMed Central Google Scholar Bochukova, E. et al. A mutation in the thyroid hormone receptor alpha gene. N. Engl. J. Med. 366, 243–249 (2012). ...
Resistance to thyroid hormone (RTH) has hitherto been associated with thyroid hormone β receptor (TRβ) mutations which cluster in two regions (αα 310–353 and αα 429–461) of the hor... 查看全部>>doi:10.1016/B978-1-4160-5583-9.00094-0M. Gurnell...
Summary The syndromes of resistance to thyroid hormone (RTH) are rare disorders characterized by elevated levels of circulating free thyroid hormones, inappropriate {TSH} secretion and variably reduced peripheral tissue responses to iodothyronine action. On the basis of clinical features, two major forms...
Resistance to thyroid hormone (RTH), a syndrome of reduced end-organ responsiveness to thyroid hormone (TH), is mostly caused by mutations in the TH receptor (TR) beta gene. Diagnosis is based on persistent elevations of serum free T(4) and often T(3) levels in the absence of TSH ...
Thyroid hormone resistance (RTH) is characterised by variable tissue hyporesponsiveness to thyroid hormone. The disorder is usually caused by mutations in the thyroid hormone receptor beta (TR beta). We describe a large family with this disorder. SUBJECTS AND MEASUREMENT: We identified 36 family mem...