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

Journal article

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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Authors: Blair, J; Mohan, U; Larcher, V; Rajanayagam, O; Burrin, J

• Publication status: Published
• Journal: Clinical endocrinology
• Volume: 57
• Issue: 3
• Pages: 405-409
• Publication date: 2002-09-01
• DOI: 10.1046/j.1365-2265.2002.01588.x
• EISSN: 1365-2265
• ISSN: 0300-0664
• Language: English
• Keywords: Thyrotoxicosis; Adult; Thyroid Hormone Resistance Syndrome; Infant, Newborn; Receptors, Thyroid Hormone; Female; Male; Mutation; Infertility, Female; Humans