A pituitary tumor in a patient with thyroid hormone resistance: a diagnostic dilemma

Thyroid : Official Journal of the American Thyroid Association
J D SaferF E Wondisford

Abstract

Resistance to thyroid hormone (RTH) is due to mutations in the beta-isoform of the thyroid hormone receptor (TR-beta). RTH patients display inappropriate secretion of thyrotropin-releasing hormone (TRH) from the hypothalamus and thyrotropin (TSH) from the anterior pituitary, despite elevated levels of thyroid hormone thyroxine (T4) and triiodothyronine (T3). Thyrotropin-secreting tumors are presumed to represent clonal expansion of abnormal cells. Because the diagnosis of TSH-secreting tumors tends to be delayed and curative surgical resection remains under 50%, early diagnosis is paramount. Current diagnostic strategies suggest that RTH patients are distinguishable from patients with TSH-secreting pituitary tumors by the use of standard laboratory tests and imaging. Here, we present a woman in whom the standard evaluation for inappropriate TSH secretion was insufficient to distinguish these entities. The patient had a low-normal TRH stimulation test and an unmeasurable alpha-glycoprotein subunit level; however, a pituitary magnetic resonance imaging (MRI) revealed an adenoma. More testing using a T3 suppression test supported a RTH diagnosis and a R438H mutation was found in the TR-beta gene. To our knowledge, this represents ...Continue Reading

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Citations

Dec 28, 2005·Pituitary·Takeshi UsuiMitsuhide Naruse
Dec 29, 2012·Journal of Genetics·Maha RebaïAhmed Rebaï
Apr 6, 2004·Molecular and Cellular Endocrinology·Sheue-Yann Cheng
Sep 26, 2008·Thyroid : Official Journal of the American Thyroid Association·Monica MarazuelaCarlos Guijarro
Jan 14, 2010·Thyroid : Official Journal of the American Thyroid Association·Huong D NguyenMohamed K M Shakir
May 21, 2011·Thyroid : Official Journal of the American Thyroid Association·Amin Sabet, Johanna A Pallotta
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Jun 5, 2013·Thyroid : Official Journal of the American Thyroid Association·Won Gu KimSheue-yann Cheng
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