Article
Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).
Clinical endocrinology - 1 Sept 2002
Blair J C, Mohan U, Larcher V F, Rajanayagam O, Burrin J M, Perry L A, Grossman A B, Chatterjee V K K, Savage M O
Abstract excerpt
We report two unusual cases of resistance to thyroid hormone (RTH) in one family. The first case, a male infant, had clinical features of thyrotoxicosis in the neonatal period. In the fourth week of life weight gain was poor despite a daily intake of standard infant formula almost double the infant's estimated requirements. At this time serum free T4 (fT4) was 60.7 pmol/l (Normal range [NR] 11-25 pmol/l) and TSH...
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