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. PATIENTS: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. CONCLUSION: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.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Magalhães PK,Rodrigues Dare GL,Rodrigues Dos Santos S,Nogueira CR,de Castro M,Zanini Maciel LM

doi

10.1111/j.1365-2265.2007.02956.x

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

748-53

issue

5

eissn

0300-0664

issn

1365-2265

pii

CEN2956

journal_volume

67

pub_type

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