https://scholars.lib.ntu.edu.tw/handle/123456789/540149
標題: | Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy | 作者: | Liu Z. Tsai W.-Y. CHENG-TING LEE |
關鍵字: | Resistance to thyroid hormone; THRB gene; Thyroid hormone receptor beta | 公開日期: | 2020 | 出版社: | Elsevier B.V. | 卷: | 119 | 期: | 10 | 起(迄)頁: | 1546-1549 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Resistance to thyroid hormone (RTH) is a rare congenital disorder characterized by impaired sensitivity of target tissues to thyroid hormone. The disease is mostly caused by heterozygous mutations of thyroid hormone receptor β (THRB) gene. We present a ten-year-old Taiwanese boy with goiter, mood disturbances and attention deficit hyperactivity disorder (ADHD). Blood tests showed elevated serum thyroxine (T4) and triiodothyronine (T3) levels with nonsuppressed thyrotropin (TSH) levels. Sella MRI failed to detect any pituitary adenoma. Initial treatment with anti-thyroid drugs resulted in increased TSH levels and goiter size. His medication was discontinued after his visit to our hospital for a second opinion. A thyrotropin-releasing hormone (TRH) stimulation test showed a normal TSH response to TRH stimulation. Molecular analysis identified a novel heterozygous THRB p.Val349Ala mutation. The patient attained normal growth and a paucity of symptoms without any medication during the follow-up period. We hope that the presentation of this case can make the early diagnosis of RTH possible so that inappropriate management of these patients can be avoided in the future. ? 2020 |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85085741881&doi=10.1016%2fj.jfma.2020.05.035&partnerID=40&md5=098997e4f891c3ce71908823ab5cb757 https://scholars.lib.ntu.edu.tw/handle/123456789/540149 |
ISSN: | 0929-6646 | DOI: | 10.1016/j.jfma.2020.05.035 | SDG/關鍵字: | alanine; antithyroid agent; liothyronine; nucleotide; propylthiouracil; protirelin; thyroid hormone receptor beta; thyrotropin; thyroxine; valine; thyroid hormone; thyroid hormone receptor beta; thyrotropin; Article; attention deficit disorder; body height; body weight; bone age; case report; child; clinical article; codon; diagnostic error; disease course; drug withdrawal; follow up; gene sequence; genital system; goiter; heterozygote; human; hyperthyroidism; hypophysis adenoma; irritability; liothyronine blood level; male; missense mutation; mood disorder; nuclear magnetic resonance imaging; penis; physical examination; provocation test; pubic hair; rare disease; school child; sella turcica; Taiwanese; testis; thyroid hormone resistance; thyrotropin blood level; thyroxine blood level; genetics; mutation; thyroid hormone resistance; Child; Humans; Male; Mutation; Thyroid Hormone Receptors beta; Thyroid Hormone Resistance Syndrome; Thyroid Hormones; Thyrotropin |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。