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Congenital Hypothyroidism due to a Low Level of Maternal Thyrotropin Receptor-Blocking Antibodies

Abstract : INTRODUCTION: Maternal TSH receptor antibodies (TRAbs) can cross the placenta and affect fetal and neonatal thyroid function. Maternal TSH receptor-blocking antibodies (TBAbs) are a rare cause of congenital hypothyroidism. CASE REPORT: Following the discovery of a highly elevated TSH on her neonatal screening test, a 10-day-old girl with no familial history of thyroid disorder was referred to the pediatric endocrinology unit. Hypothyroidism was confirmed with a highly elevated TSH (817 mIU/L, reference range 0.4-3.1) and very low levels of FT4 (1.8 pmol/L, reference range 12-22). Anti-TPO antibodies were at 81 IU/mL (reference range \textless34), TRAbs at 1.7 IU/L (reference range \textless1.75), and thyroglobulin at 9.4 µg/L (reference range 3.5-77). The thyroid appeared normal on ultrasonography, and no radioiodine uptake was seen on the scintigraphy after the perchlorate discharge test. Concomitantly, a severe maternal hypothyroidism was discovered (TSH 224 mIU/L). The maternal ultrasound appeared normal, anti-TPO antibodies were moderately elevated, and TRAbs were at 3.2 IU/L. TBAbs activity was measured in the mother and her daughter, and a very high and similar blocking activity was observed in both patients (TBAbs 89%, reference range \textless10%). L-thyroxine treatment was introduced in the newborn and was successfully discontinued at 6.5 months of age, as the TBAbs activity decreased. CONCLUSION: We report herein a case of transient congenital hypothyroidism with a normal neonatal TRAbs level. In case of maternal TBAbs, similar activity of maternal TBAbs must be expected in the neonate, independently of the neonatal level of TRAbs.
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https://www.hal.inserm.fr/inserm-03337963
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Submitted on : Wednesday, September 8, 2021 - 12:55:46 PM
Last modification on : Friday, September 10, 2021 - 3:25:26 AM

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S. Castellnou, P. Bretones, J. Abeillon, M. Moret, P. Perrin, et al.. Congenital Hypothyroidism due to a Low Level of Maternal Thyrotropin Receptor-Blocking Antibodies. European thyroid journal, 2021, 10 (2), pp.174-178. ⟨10.1159/000509015⟩. ⟨inserm-03337963⟩

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