Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy
Journal
Journal of the Formosan Medical Association
Journal Volume
119
Journal Issue
10
Pages
1546-1549
Date Issued
2020
Author(s)
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. ? 2020
Subjects
Resistance to thyroid hormone; THRB gene; Thyroid hormone receptor beta
SDGs
Other Subjects
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
Publisher
Elsevier B.V.
Type
journal article