Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor

The Journal of Clinical Endocrinology and Metabolism
R E WeissS Refetoff

Abstract

Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function. We describe a unique family in which the dominantly inherited RTH is not associated with abnormalities in the TR beta or TR alpha genes, as determined by gene sequencing and linkage analysis. However, affected family members manifest a severe form of RTH, with reduced responses of thyrotrophs and peripheral tissues requiring 8- to 10-fold the normal replacement doses of L-T4 and L-T3. No other endocrine abnormalities were detected. The defect developed de novo in the proposita and was transmitted to her two children of unrelated fathers. As cultured fibroblasts from the proposita responded poorly to T3 despite a normal concentration of TR, other abnormalities in the mediation of T3 action were sought. Nucleotide sequences of the TSH beta promoter, containing thyroid hormone response elements, and TR-interacting protein 1 were normal. Nuclear extracts (NE) of cultured skin fibroblasts from affected individuals of this family were tested for the...Continue Reading

Citations

Feb 10, 2012·The Journal of Clinical Endocrinology and Metabolism·Alfonso Massimiliano FerraraSamuel Refetoff
Feb 1, 2006·Irish Journal of Medical Science·J H McDermottS Sreenan
Aug 15, 2015·The American Journal of the Medical Sciences·Shuiqing LaiJian Kuang
Jul 10, 2013·Clinical Endocrinology·W Edward VisserRobin P Peeters
Nov 21, 2015·La Presse médicale·Virginie Vlaeminck-GuillemJean-Louis Wémeau
Jul 11, 2006·Clinics in Dermatology·Kenneth D Burman, Lynn McKinley-Grant
Apr 27, 2018·Endocrine Journal·Hideyuki OkumaTakanobu Yoshimoto
Aug 4, 2018·Journal of Cellular Biochemistry·Zhixia ZhouShiguo Liu
Apr 13, 2019·Molecular Diagnosis & Therapy·Paola ConcolinoRosa Maria Paragliola
Jul 9, 2020·Journal of Clinical Medicine·Xavier DieuDelphine Mirebeau-Prunier
Jun 29, 2006·The Journal of Clinical Endocrinology and Metabolism·Sunee MamanasiriSamuel Refetoff
Feb 18, 1999·The Journal of Clinical Endocrinology and Metabolism·R E Weiss, S Refetoff
Jan 15, 2002·The Journal of Clinical Endocrinology and Metabolism·George J KahalyV Krishna K Chatterjee

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