Preferred Label : thyroid hormone resistance syndrome;

MeSH definition : An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.;

MeSH synonym : refetoff dewind degroot syndrome; syndrome, refetoff-dewind-degroot; refetoff syndrome; syndrome, refetoff; refetoff-dewind-degroot syndrome;

CISMeF synonym : generalized resistance to thyroid hormone;

Related MeSH term : Thyroid Hormone Resistance; Hormone Resistance, Thyroid; Resistance, Thyroid Hormone; Generalized Thyroid Hormone Resistance;

MeSH annotation : differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present;

Wikipedia link : https://en.wikipedia.org/wiki/Thyroid hormone resistance;

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An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=97927
2011
France
scientific and technical information
thyroid hormone resistance syndrome

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=165994
2011
France
scientific and technical information
thyroid hormone resistance, selective pituitary
thyroid hormone resistance syndrome
pituitary hormones
thyroid hormone resistance, selective pituitary

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26/04/2025


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