title: Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.
abstract: OBJECTIVE
  Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of reduced tissue responsiveness to thyroid hormone usually due to mutations located in the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor beta (TRbeta). In the present report we describe the clinical and laboratory characteristics and the genetic analysis of patients with this rare disorder from a Brazilian population.
  
  
  METHODS
  Four unrelated Brazilian families with diagnosis of RTH were studied. Age at diagnosis varied from 14 months to 29 years.
  
  
  RESULTS
  All affected individuals were clinically euthyroid, except for one patient who presented immediately after birth with hyperthyroidism. All individuals had tachycardia and goitre, elevated concentrations of free thyroid hormones and reduced sensitivity to thyroid hormone. Direct sequencing analysis of the TRbeta gene revealed four previously reported mutations: c.949G-->A, c.1313G-->A, c.1357C-->A and c.1358dupC in families A, B, C and D, respectively.
  
  
  CONCLUSIONS
  The present report shows that the frequent mutations described in the thyroid hormone receptor worldwide are also present in the Brazilian population, which is characterized by a variable ethnic background.
authors.affiliation: Division of Endocrinology, Department of Internal Medicine, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil.
authors.forename: Patricia Künzle Ribeiro
authors.initials: PK
authors.lastname: Magalhães
authors.forename: Gustavo Leopoldo
authors.initials: GL
authors.lastname: Rodrigues Dare
authors.forename: Sandra
authors.initials: S
authors.lastname: Rodrigues Dos Santos
authors.forename: Celia Regina
authors.initials: CR
authors.lastname: Nogueira
authors.forename: Margaret
authors.initials: M
authors.lastname: de Castro
authors.forename: Lea Maria
authors.initials: LM
authors.lastname: Zanini Maciel
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006042:Goiter / Q000097:blood; D006339:Heart Rate; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000097:blood* / Q000235:genetics* / Q000523:psychology; D013963:Thyroid Hormones / Q000097:blood
chemical_list: D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones