A Case of Hypo-Responsiveness to Thyroid Hormone

A 16-month-old male patient with severe growth and mental retardation is reported. Although his thyroid function tests showed high circulating levels of free 3, 5, 3′-triiodothyronine (T3), free thyroxin (T4) and thyrotropin (TSH), he had no clinical manifestations suggesting hyperthyroidism. Physic...

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Bibliographic Details
Published inClinical Pediatric Endocrinology Vol. 5; no. 1; pp. 17 - 21
Main Authors Kitazawa, Yumi, Mori, Tetsuo, Sekiguchi, Yukio, Matsuzawa, Shigeyuki, Baba, Atsushi, Washizawa, Kazuhiko, Wakabayashi, Yasunobu, Komiyama, Atsushi, Sakurai, Akihiro, Hashizume, Kiyoshi
Format Journal Article
LanguageEnglish
Published The Japanese Society for Pediatric Endocrinology 1996
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Summary:A 16-month-old male patient with severe growth and mental retardation is reported. Although his thyroid function tests showed high circulating levels of free 3, 5, 3′-triiodothyronine (T3), free thyroxin (T4) and thyrotropin (TSH), he had no clinical manifestations suggesting hyperthyroidism. Physical responses to exogenous T3 were normal. T4 supplement (7-10μg/kg/day) dramatically improved his growth and mental development, suggesting that his clinical symptoms were due to a relative shortage of thyroid hormone. Direct sequencing confirmed that he carried a normal thyroid hormone receptor β (TRβ) gene. The mechanism causing hypo-responsiveness to thyroid hormone in this patient is unclear.
ISSN:0918-5739
1347-7358
DOI:10.1297/cpe.5.17