Article
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.
The Journal of clinical investigation - 1 Mar 1996
Medeiros-Neto G, Herodotou D T, Rajan S, Kommareddi S, de Lacerda L, Sandrini R, Boguszewski M C, Hollenberg A N, Radovick S, Wondisford F E
Abstract excerpt
Mutation of a critical carboxy-terminal cysteine residue (C105V) in the thyrotropin-beta (TSH-beta) subunit gene was found in two related families with central hypothyroidism. Affected patients had low thyroid hormone levels and radioactive iodine uptake in the thyroid gland associated with measurable serum TSH. Thyrotropin-releasing hormone-stimulated TSH secretion did not increase thyroid hormone production in...
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