The Syndromes of Resistance to Thyroid Hormone*

Refetoff, Samuel; Weiss, Roy E.; Usala, Stephen J.

doi:10.1210/edrv-14-3-348

Cited by 418 publications

(375 citation statements)

References 34 publications

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“…Like the majority of reported cases [1], goiter was the major presenting feature in our patient. The goiter is likely to be related to thyroidal stimulation by the elevated TSH.…”

Section: Discussionsupporting

confidence: 70%

“…Tissue distribution of TR isoforms has been implicated in the difference in responsiveness among various organ systems [17,18]. TRJ9 is involved in the development of the cochlea [19] and hearing defect has been reported in a minority of subjects [1]. No evidence of hearing disturbance was evident in our patients.…”

Section: Discussionmentioning

confidence: 50%

“…The goiter is likely to be related to thyroidal stimulation by the elevated TSH. However, a number of RTH subjects still have goiter despite TSH in the normal range [1,15] . This can be partly explained by the increased biological activity of TSH from subjects with RTH compared to controls [16].…”

Section: Discussionmentioning

confidence: 99%

“…RTH is almost exclusively caused by the mutation in T3-binding domain of TRJI gene corresponding to the region encompassing exons 9 and 10. More than 50 mutations in the TRJS have been reported [20]. All mutations clustered around 2 areas, from codon 310-349 and codon 429-460.…”

Section: Discussionmentioning

confidence: 99%

“…RESISTANCE to thyroid hormone (RTH) is a syndrome of reduced clinical manifestation of thyroid hormone action relative to the circulating thyroid hormone levels [1,2]. Affected individuals often have goiter but are otherwise asymptomatic.…”

mentioning

confidence: 99%

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A De Novo L330S Point Mutation in Thyroid Hormone Receptor Beta Gene in a Thai Female with Resistance to Thyroid Hormone.

et al. 1999

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Abstract.In the present study, we report a Thai female with a de novo mutation in thyroid hormone receptor-n (TR jI) gene causing resistance to thyroid hormone (RTH). The patient was a 19 year-old woman who presented with goiter for 1 year. Except for tachycardia she had no signs of thyrotoxicosis.Previously she was treated with propylthiouracil based on the diagnosis of thyrotoxicosis for 9 months and her goiter became more enlarged.The patient was the only child of the family. Her parents were alive and healthy, and did not have goiter or any other thyroid diseases. Physical examination revealed no sign of thyrotoxicosis.Her thyroid gland was diffusely enlarged with an estimated weight of 100 gm. Laboratory determinations revealed elevated free T4, T3 and nonsuppressed TSH levels. Exon 9 of the TR JI gene was amplified by PCR and the DNA sequence was determined by dye terminator cycle sequencing.Heterozygous point mutation in which T was replaced by C was detected at position 1274 (TTG to TCG) corresponding to a leucine to serine substitution at codon 330. No mutation was found in the parents indicating that the mutation was de novo. The nucleotide change created a restriction site for Taq 1 restriction endonuclease and the mutation was confirmed by restriction fragments length polymorphism.The same nucleotide change has been reported in a family with RTH.

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“…Like the majority of reported cases [1], goiter was the major presenting feature in our patient. The goiter is likely to be related to thyroidal stimulation by the elevated TSH.…”

Section: Discussionsupporting

confidence: 70%