title: DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone.
abstract: BACKGROUND
  Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis.
  
  
  METHODS
  We used direct DNA sequencing of the THRB gene.
  
  
  RESULTS
  We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of the ligand-binding domain, a protein domain associated with resistance to thyroid hormone.
  
  
  CONCLUSIONS
  DNA-based diagnosis of thyroid hormone resistance syndrome is simple, reliable, and economical compared to traditional biochemical tests. Once the mutation is identified, targeted screening for the whole family can be performed and the unnecessary use of anti-thyroid drugs or thyroidectomy can be avoided.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Angel
authors.initials: A
authors.lastname: On-Kei Chan
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Chi-Chung
authors.initials: CC
authors.lastname: Shek
authors.forename: Sau
authors.initials: S
authors.lastname: Cheung Tiu
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D037042:Thyroid Hormone Receptors beta / Q000235:genetics* / Q000378:metabolism; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis* / Q000235:genetics*; D013963:Thyroid Hormones / Q000235:genetics* / Q000378:metabolism; D013997:Time Factors
chemical_list: D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones