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Chinese Journal of Endocrinology and Metabolism ; (12): 996-1000, 2022.
Artigo em Chinês | WPRIM | ID: wpr-957644

RESUMO

We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.

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