Abstract
Transient neonatal hypothyroidism due to transplacental transfer of maternal TSH receptor blocking antibodies (TBIIs) is a rare cause of congenital hypothyroidism. A woman with hypothyroidism secondary to Hashimoto's thyroiditis diagnosed and treated since age 15 y delivered three babies at age 21, 23 and 25 y. TBII tilers were very high throughout this period in the mother and in the newborns. All three babies (2 boys, 1 girl) had high TSH on newborn screening (Table in SI units) and were started on thyroxine replacement (8-12 μg/kg) at age 16 d (#1 and 2) and 3 d(#3).
Treatment was stopped at age 33 mo in sib #1 and at age 15 mo in sib #2; both have remained euthyroid since. In addition, #1 had artial septal defect, #2 had unilateral renal agenesis, and #3 died at 10 w of a complex cardiac malformation. During pregancy #1, maternal TSH levels were all normal, whereas during pregnancies #2 and #3, they were elevated (8-20 mIU/l). Developmental evaluation of sib #1 at age 4 y showed an IQ of 91 (Mc Carthy test), while sib #2 at age 2 1/2 y had a motor deficit (Bailey scale: motor 72, mental 88).
Conclusions: transplacental transfer of TBIIs in this family was associated with 1) transient neonatal hypothyroidism in all children, with normal thyroid size at birth; 2) various congenital malformations in all children; 3) a developmental outcome that appeared related to maternal TSH levels but not to severity of hypothyroidism at diagnosis.
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Pacaud, D., Huot, C., Gattereau, A. et al. OUTCOME OF 3 SIBLINGS WITH ANTIBODY-MEDIATED TRANSIENT CONGENITAL HYPOTHYROIDISM. Pediatr Res 33 (Suppl 5), S92 (1993). https://doi.org/10.1203/00006450-199305001-00532
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DOI: https://doi.org/10.1203/00006450-199305001-00532