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Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.
Metadata
Journaljournal of the formosan medical association3.008Date
2020 Jun 03
4 months ago
Type
Case Report
Volume
2020-Oct / 119 : 1546-1549
Author
Liu Z 1, Tsai WY 1, Lee CT 2
Affiliation
  • 2. Department of Pediatrics, National Taiwan University Hospital and National, Taiwan University College of Medicine, Taipei, 100, Taiwan; Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, 100, Taiwan. Electronic address: [email protected]
Doi
PMIDMESH
Abstract
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.
Keywords: Resistance to thyroid hormone THRB gene Thyroid hormone receptor beta
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J Formos Med Assocjournal of the formosan medical association
Metadata
LocationSingapore
FromELSEVIER TAIWAN

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