Thyroid hormone resistance

Thyroid hormone resistance describes a rare syndromewhere the thyroid hormonelevels are elevated but the thyroid stimulating hormone(TSH) level is not suppressed, or not completely suppressed as would be expected.

The most common cause of the syndrome are mutationsof the β (beta) form of the thyroid hormone receptor, of which over 100 different mutations have been documented.

Thyroid hormone resistance syndrome is rare, incidence is variously quotes as 1 in 50,000 or 1 in 40,000 live births.

The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation. Typically some or all tissues are resistant to taking up thyroid hormone, so despite raised measures of serum thyroid hormone the individual may appear euthyroid (have no symptoms of over- or underactivity of the thyroid gland). The most common symptoms are goiter and tachycardia. It has also been linked (Hauser et al 1993) to some cases of attention deficit hyperactivity disorder(ADHD), although the majority of people with that diagnosis have no thyroid problems.

The characteristic blood testresults for this disorder can also be found in other disorders (for example TSH-oma (pituitary adenoma), or other pituitarydisorders). The diagnosis may involve identifying a mutation of the thyroid receptor. Yet, since discovery of resistance to thyroid hormones in the absence of thyroid hormone recptor beta mutations, lack of a mutation in a patient does not rule out resistance.

Sometimes the phrase thyroid hormone resistance is used to identify cases where patients with autoimmunethyroid disorders respond poorly to normal doses of replacement thyroid hormone, this is thought to occur where patients have developed antibodiesto thyroid hormones. Antibodies to thyroid hormones quite commonly occur in such disorders, and may interfere with the normal clinical assays used in monitoring such disorders, and in unusual cases may have further independent clinical significance.

References

• OMIM188570(thyroid hormone resistance), OMIM190160(thyroid hormone receptor β), OMIM274300(thyroid hormone unresponsiveness), OMIM275200
• Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967 Feb;27(2):279-94.
• Hauser P, Zametkin AJ, Martinez P, Vitiello B, Matochik JA, Mixson AJ, Weintraub BD. Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. N Engl J Med 1993;328:997-1001. PMID 8450877.

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Thyroid+hormone+resistance Wikipedia article Thyroid hormone resistance.