SECISBP2基因变异致甲状腺激素代谢缺陷1例并文献复习

Thyroid hormone metabolism defect caused by SECISBP2 gene mutation:a case report and literatures review

我们报道国内首例由硒半胱氨酸插入序列结合蛋白2(SECISBP2)基因复合杂合变异致甲状腺激素代谢缺陷男童的病例并复习文献,以提高临床医生对甲状腺激素代谢缺陷的认识。临床上对生长迟缓、运动发育落后的患儿,如甲状腺功能检测示TSH正常或轻度升高、T4升高而T3下降,应考虑甲状腺激素代谢缺陷。

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 T4 and decreased T3.