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. 2023 Jul 28;12(4):e220223. doi: 10.1530/ETJ-22-0223

Table 4.

Case reports of RTHβ combined with GD.

Authors Year Country Age/gender Clinical manifestations Clinical course TSH variations (μIU/mL) Family history THRB mutation Treatment Management and follow-up
1 Pillay et al. (25) 1986 South Africa 24/F (pregnant) Signs of thyrotoxicosis, goiter, and exophthalmos GD→RTHβ N/A Brother N/A Propranolol, ATD Symptomatic control but biochemically remained hyperthyroid
2 Sato (26) 2010 Japan 34/F Signs of thyrotoxicosis and goiter RTHβ+ Hashimoto’s thyroiditis→GD 1.124→1.795 Father P453T ATD Two years after cessation of ATD, GD remission
3 Sivakumar & Chaidarun (27) 2010 Lebanon 53/M Signs of thyrotoxicosis and goiter GD→RTHβ 0.2→31.5 No G347W 131I ablation of the thyroid gland, L-T4 Recovery
4 Ogawa et al. (28) 2011 Japan 17/M Signs of thyrotoxicosis and goiter GD→RTHβ <0.05→8.308 No A234T ATD Thyroid function almost within the appropriate range, and GD near remission
5 Shiwa et al. (29) 2011 Japan 33/F Signs of thyrotoxicosis and goiter GD→RTHβ 0.007→107.7 N/A G251R ATD GD remission
6 Ramos-Leví et al. (30) 2016 Spain 46/F Signs of thyrotoxicosis, goiter, headache, and atrial fibrillation RTHβ complicated with pituitary adenoma and GD 2.86→20 N/A p.P453R Cabergoline, ATD, 131I therapy, L-T4 Thyroid hormone still elevated but remained asymptomatic
7 Sun et al. (31) 2017 China 14/F Signs of thyrotoxicosis and goiter GD→RTHβ 0.037→75.52 Father A THRB mutation in Exon 10 ATD, propranolol Asymptomatic with slightly elevated FT3 and FT4 levels, and a normal TSH level
8 Akahori & Usuda (7) 2021 Japan 30/M Signs of thyrotoxicosis and goiter GD→RTHβ <0.35→4.77 No R282S ATD Thyroid hormone fluctuated after cessation of ATD but no signs of thyrotoxic symptoms
9 Case 4 2022 China 51/M Signs of thyrotoxicosis and exophthalmos GD→RTHβ Less than detectable→>150 N/A p.R383H ATD, 131I therapy, L-T4, bromocriptine, octreotide, and desiccated thyroxine tablets Recovery

ATD, antithyroid drugs; FT3, free tri-iodothyronine; FT4, free thyroxine; GD, Graves' disease; L-T4, levothyroxine; N/A, not available; RTHβ, resistance to thyroid hormone β; THRB, thyroid hormone receptor β; TRAb, thyroid-stimulating hormone receptor antibodies; TRH, thyroid-stimulating hormone releasing hormone; TSH, thyroid-stimulating hormone.