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New nomenclature proposed for resistance to thyroid hormone
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A group of researchers from universities in seven countries, including five in the United States, are proposing new nomenclature to describe inherited forms of impaired sensitivity to thyroid hormone.
Researchers propose the use of additional designations to distinguish between variants in the thyroid hormone receptor (THR) gene mutations — whether THRB or THRA — to accommodate more recent findings.
To distinguish between identified mutations that present distinct phenotypes via THR genes, and to allow easier naming of any future discoveries, the researchers propose the use of “RTH” to represent resistance to thyroid hormone. THRA, which is currently synonomous with congenital nongoitrous hypothyroidism, would be represented using the term “RTH alpha” and “RTH beta” in new publications when a THRB gene mutation, which causes overall thyroid hormone unresponsiveness, is associated with the RTH phenotype.
The group is also urging clinicians to avoid using “THR” interchangeably with “RTH” as it is not the hormone that is resistant.
Disclosure: The researchers report no relevant financial disclosures.
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