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Table 1 Literature review of RTHβ and AITD in pregnancy

From: Resistance to thyroid hormone β in autoimmune thyroid disease: a case report and review of literature

Author RTHβ THRB mutation AITD Thyroid antibodies Gestational management for RTHβ Maternal outcome Foetal outcome
Jonas et al. 2014 [5] R320C (c1243C > T) Hashimoto’s thyroiditis: TPOAb and TgAb positive, TRAb negative. 3 pregnancies. Levothyroxine (LT4) to maintain an fT4 range within 20% of the upper limit of normal. No chorionic villous sampling. Uneventful pregnancies. Developed postpartum thyroiditis (PPT). Full-term neonates had normal birth weights and body lengths. The first child harboured the THRB mutation.
Paragliola et al. 2013 [10] V283A (g.361470 T > C) on exon 8 TPOAb and TgAb positive, TRAb negative. 2 pregnancies. Monthly monitoring of her thyroid function. Did not require any treatment Uneventful pregnancies. Developed PPT after pregnancies. Full-term male neonates with normal birth weights and normal thyroid function.
Boix et al. 2007 [11] M310 V on exon 9 Iatrogenic hypothyroidism after radioiodine treatment for autoimmune hyperthyroidism Triiodothyronine (LT3) to maintain normal TSH. Unsuccessful amniocentesis for RTH testing. Uneventful pregnancy 36 week unaffected male neonate with normal birth weight.
Furlanetto et al. 2000 [12] M310 L (928A > T) on exon 9 TPOAb negative. Uneventful pregnancy. Full-term affected female neonate with length 46 cm (5–10th percentile), and weight 2250 g (<5th percentile). Elevated thyroid function.
Sarkissian et al. 1999 [13] T329 N on exon 9 Antithyroid, anti-T4 and anti-T3 antibodies were negative. Dextrothyroxine (DT4) therapy was discontinued upon pregnancy. Five spontaneous abortions. 35 week unaffected male neonate with normal weight and normal thyroid function. 38 week affected female neonate weight 2850 g and length 47 cm (height/Age at -2SD compared to -1SD in both parents, and body mass index of 12.9 at the fifth percentile for age).
  1. Abbreviations: TPOAb peroxidase antibodies, TgAb thyroglobulin antibodies, TRAb TSH receptor antibodies, fT4 free thyroxine