Thyroid hormone resistance syndrome

Definition:

Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.

References:

[1]. Sheue-yann Cheng, et al. Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. Trends Endocrinol Metab. 2005 May-Jun;16(4):176-82. [Content Brief]

[2]. Tolulope O Olateju, et al. Thyroid hormone resistance. Ann Clin Biochem. 2006 Nov;43(Pt 6):431-40. [Content Brief]

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