19 research outputs found
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
Successful Therapy with L-T4 in a 5 Year-old Boy with Generalized Thyroid Hormone Resistance
A novel splice variant involving the 5’ untranslated region of thyroid hormone receptor β1 (TRβ1)
A case of resistance to thyroid hormone without mutation in the thyroid hormone receptor beta
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report
<p>Abstract</p> <p>Introduction</p> <p>Resistance to thyroid hormone is a syndrome caused by thyroid hormone receptor β mutations, which are usually inherited in an autosomal-dominant pattern.</p> <p>Case presentation</p> <p>Our patient, a Japanese neonate boy, showed hyperthyroid symptoms at age two days. Although our patient was diagnosed as having resistance to thyroid hormone, his hyperthyroid symptoms continued for two weeks. Therefore, our patient was treated with methimazole and iodine for two weeks from birth, showing no side effects and no symptoms upon treatment. At age 70 days, an R243W mutation in thyroid hormone receptor β was detected in our patient; while absent in his mother, the mutation was present in his father, who never showed any symptoms.</p> <p>Conclusions</p> <p>To the best of our knowledge this is the first case report of a resistance to thyroid hormone in a neonate presenting with hyperthyroid symptoms born to a mother with Graves’ disease and treated with methimazole and iodine. These results suggest that methimazole and iodine may be a good short-term option for treatment.</p