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). |