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Exp Clin Endocrinol Diabetes 2009; 117(1): 34-37
DOI: 10.1055/s-2008-1076712
Article

© Georg Thieme Verlag KG Stuttgart · New York

Thyroid Hormone Receptor Beta Gene Mutation (P453A) in a Family Producing Resistance to Thyroid Hormone

T. Bayraktaroglu 1 , J. Noel 2 , F. Alagol 1 , N. Colak 1 , N. M. Mukaddes 3 , S. Refetoff 2 , 4 , 5 , 6 , 7
  • 1Department of Internal Medicine, Division of Endocrinology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey
  • 2Department of Medicine, The University of Chicago, Chicago, Illinois, USA
  • 3Department of Child Psychiatry, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey
  • 4Pediatrics, The University of Chicago, Chicago, Illinois, USA
  • 5The Committees on Molecular Medicine, The University of Chicago, Chicago, Illinois, USA
  • 6Genetics, The University of Chicago, Chicago, Illinois, USA
  • 7The JP Kennedy Mental Retardation and Developmental Disabilities Center, The University of Chicago, Chicago, Illinois, USA
Further Information

Publication History

received 06.01.2008 first decision 15.03.2008

accepted 11.04.2008

Publication Date:
17 June 2008 (online)

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Abstract

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by decreased responsiveness of target tissues to thyroid hormone. Two members of a Turkish family, a mother and son, had thyroid function tests suggestive of resistance to thyroid hormone (RTH).

Methods: The clinical presentation was, however, different. The mother (proposita) had palpitation, weakness, tiredness, nervousness, dry mouth and was misdiagnosed as having multinodular toxic goiter which was treated with antithyroid drugs and partial thyroidectomy. Her younger son had attention deficit hyperactivity disorder and primary encopresis, but normal intellectual quotient. Both had elevated serum iodothyronine levels with nonsuppressed thyrotropin.

Results: A mutation in one allele of the thyroid hormone receptor beta gene (P453A) was identified, providing a genetic confirmation for the diagnosis of RTH.

Conclusion: Mutational analysis of the TRß gene allows definitive diagnosis of RTH, potentially avoiding the need for protracted and expensive pituitary function testing.

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Correspondence

T. Bayraktaroglu

Department of Internal Medicine

Division of Endocrinology

Istanbul University

Istanbul Medical Faculty

Istanbul

Turkey

GSM: +90 505 6766301/+905327114866

Phone: +90/212/414 20 00/313 12

Fax: +90/212/635 88 76

Email: baytaner@yahoo.com