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通过新生儿甲状腺功能减退筛查发现的两例家族性甲状腺素结合球蛋白(TBG)缺乏症(作者译)

[Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].

作者信息

Ronconi G F, Pesenti P, Tezzele A, Bogoni A, Zanardo V

出版信息

Pediatr Med Chir. 1981 Mar-Jun;3(2-3):239-42.

PMID:6806781
Abstract

Thyroxine-binding globulin deficiency is a well-known condition transmitted as a X-linked dominant trait or as autosomal dominant trait. This condition is benign and hypothyroidism is never associated. Values of T4 in the serum are abnormally low, TSH values are normal, RT3U values are high. TBG deficiency probably are much more diffuse than we believed in past. Therefore it's possible to detect this deficit through screening programs for neonatal hypothyroidism. In this paper we describe two cases of TBG deficit. Thyroid function and TBG levels in babies and in their families are studied. In our sample of three years the incidence is I:3170 newborns, The presumable inheritance pattern are both X-linked dominant and autosomal dominant. Neither in affected babies nor in their relatives thyroid function is abnormal.

摘要

甲状腺素结合球蛋白缺乏症是一种已知的病症,以X连锁显性性状或常染色体显性性状遗传。这种病症是良性的,从不伴有甲状腺功能减退。血清中T4值异常低,TSH值正常,RT3U值高。甲状腺素结合球蛋白缺乏症可能比我们过去认为的更为普遍。因此,通过新生儿甲状腺功能减退筛查项目有可能检测到这种缺陷。在本文中,我们描述了两例甲状腺素结合球蛋白缺乏症病例。对婴儿及其家庭的甲状腺功能和甲状腺素结合球蛋白水平进行了研究。在我们三年的样本中,发病率为1:3170新生儿,推测的遗传模式为X连锁显性和常染色体显性。无论是患病婴儿还是其亲属,甲状腺功能均无异常。

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