Normal Cord Blood Thyroid-Stimulating Hormone in a Child with Resistance to Thyroid Hormone

Normal Cord Blood Thyroid-Stimulating Hormone in a Child with Resistance to Thyroid Hormone

An 8-year-old asymptomatic child was genetically diagnosed to have resistance to thyroid hormone (RTH) during a family screening. The disease-causing mutation is inherited from his father. Retrospective study showed the boy had a normal umbilical cord blood thyrotropin (TSH) level, suggesting that u...

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Veröffentlicht in:Neuroembryology and aging 2005, Vol.3 (2), p.75-77
Hauptverfasser: Chan, Angel On-Kei, Lam, Ching-Wan, Lo, Ivan Fai-Man, Lam, Stephen Tak-Sum, Shek, Chi-Chung, Tiu, Sau-Cheung, Tong, Sui-Fan
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Sprache:eng
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Case Report
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Zusammenfassung:An 8-year-old asymptomatic child was genetically diagnosed to have resistance to thyroid hormone (RTH) during a family screening. The disease-causing mutation is inherited from his father. Retrospective study showed the boy had a normal umbilical cord blood thyrotropin (TSH) level, suggesting that umbilical cord blood TSH may not reflect the fetal pituitary-thyroid axis abnormality and prenatal diagnosis and treatment should not be recommended in patients with mild RTH phenotype.
ISSN:1661-3406
1661-3414
DOI:10.1159/000087089