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Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L

Abstract

Background The UK recommended lower threshold for neonatal blood spot thyroid stimulating hormone (TSH) screening for congenital hypothyroidism (CHT) is 10.0 mU/L. Some laboratories use lower thresholds. This will lead to referral of mildly or unaffected infants but some will require thyroxine therapy.

Methods Laboratory referrals with a first or repeat capillary TSH between 8.0 and <10.0 mU/L were identified (January 2004 to March 2014). The outcome of these cases was examined.

Results 26 infants had one or more blood spot TSH values between 8.0 and 9.99 mU/L; 65% had transient elevated neonatal TSH while one is awaiting diagnostic challenge. The remaining eight (31%) have permanent CHT; three with dyshormonogenesis, two with thyroid ectopia and the others met the criteria for definite CHT. Two out of three with dyshormonogenesis presented with decompensated hypothyroidism.

Conclusions Infants with permanent and occasionally severe CHT may have a screening TSH below the UK recommended lower cut-off.

  • Congenital hypothyroidism
  • Newborn screening
  • Thyroid stimulating hormone
  • free thyroxine

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