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Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).

Abstract:

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 was inappropriately normal at 1.8 mU/l (NR 0.3-4.0 mU/l). The infant responded cl...

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Publication status:
Published

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Journal:
Clinical endocrinology
Volume:
57
Issue:
3
Pages:
405-409
Publication date:
2002-09-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:ffb24d08-e97d-492e-a91c-54cb1b2cc6f3
Source identifiers:
138257
Local pid:
pubs:138257

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