甲状腺结合球蛋白缺乏症3个家系报告

doi:10.12372/jcp.2025.25e0349

Abstract

Abstract:

Objective To investigate the clinical characteristics and genetic features of thyroid-binding globulin (TBG) deficiency, enhance the accuracy of clinical diagnosis, and avoid misdiagnosis and overtreatment. Methods Members from three different families were subjected to SERPINA7 gene sequencing to explore its genetic basis. Results The variants detected in the three families through whole-exome sequencing occurred in exons, specifically c.712A>G(p.M238V), c.1114delC(p.L372Ffs*23), and c.383-401dup(p.F135Afs*21), with the variants in Family 1 and Family 3 being reported for the first time. Conclusion TBG deficiency does not require special treatment; correct diagnosis and comprehensive disease education are key to the management of this condition. This study identified two new SERPINA7 gene variants, expanding the mutation spectrum of this gene.

Key words: thyroxine binding globulin deficiency, SERPINA7, genetic testing

CLC Number:

LI Miaomiao, PAN Guimei, LIU Lei, CHEN Qiong, LI Yangshiyu, ZHANG Zixia, WANG Xi, DU Mengmeng, WEI Haiyan, CHEN Yongxing. Thyroxine binding globulin deficiency in three families and review of the literature[J].Journal of Clinical Pediatrics, 2025, 43(8): 598-603.

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References 27

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Thyroxine binding globulin deficiency in three families and review of the literature

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