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Abstract
We investigated the incidence of congenital malformation in all infants with raised
thyroid-stimulating hormone (TSH) levels on neonatal screening in Scotland between
August 1979 and December 1993. Of 344 infants with elevated TSH, 31 (9%) had one or
more malformations: 12 cardiac 15 noncardiac, and 16 dysmorphic syndromes (including
5 with Down syndrome). Criteria were devised to distinguish between definite or probable
congenital hypothyroidism and transient TSH elevation. Congenital hypothyroidism was
considered definite in 224 (65.1%) infants and probable in 11 (3.2%). Eighty-eight
(25.6%) infants had transient TSH elevation, whereas thyroid status was uncertain
in 21 (6.1%). In the definite group 12 (5.4%) infants had one or more malformations
compared with 13 (14.8%) in the transient group. Cardiac malformation, noncardiac
malformation, dysmorphic syndromes, and "sickness" were much more frequent in the
transient compared with the definite group: 5.7% versus 1.8%, 8.0% versus 1.8%, 6.8%
versus 2.7%, and 37.5% versus 7.1%, respectively. The incidence of congenital malformation
in bonafide congenital hypothyroidism is lower than has been previously reported.
The high incidence of congenital malformation associated with transient TSH elevation
indicates the need to reevaluate the diagnosis of hypothyroidism in all infants with
TSH elevation and concurrent illness or malformation.