Publication:
A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma

Issued Date

2016-12-01

Resource Type

Article

ISSN

15579077
10507256

DOI

10.1089/thy.2016.0450

Other identifier(s)

2-s2.0-85006272176

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Thyroid. Vol.26, No.12 (2016), 1804-1806

Suggested Citation

Chutintorn Sriphrapradang, Panudda Srichomkwun, Samuel Refetoff, Sunee Mamanasiri A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid. Vol.26, No.12 (2016), 1804-1806. doi:10.1089/thy.2016.0450 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/42868

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Title

A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma

Author(s)

Chutintorn Sriphrapradang
 Panudda Srichomkwun
 Samuel Refetoff
 Sunee Mamanasiri

Other Contributor(s)

Mahidol University
 University of Chicago
 Ratchaburi Regional Hospital

Abstract

© Copyright 2016, Mary Ann Liebert, Inc. 2016. A patient is reported with resistance to thyroid hormone beta caused by a novel THRB gene mutation and coexisting pituitary microadenoma. A 41-year-old Thai woman presented with elevated serum thyroid hormone levels and non-suppressed thyrotropin (TSH). Magnetic resonance imaging showed a 4 mm × 2 mm pituitary adenoma. Five of her relatives had similar thyroid tests abnormalities, but a sister had Graves' disease. Thyroperoxidase and thyroglobulin antibodies were positive in all affected family members, except for the proband's 4.5-year-old niece. Lack of thyrotoxic symptoms and TSH suppression by triiodothyronine indicated incidentaloma rather than a TSH-secreting pituitary adenoma. Genetic analysis revealed a THRB gene mutation (c.1037G>T), resulting in p.G251V.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/42868

Collections

Scopus 2016-2017