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.