Diabetes, Metabolic Syndrome and Obesity (Jul 2023)

Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review

  • Liu X,
  • Li S,
  • Xiong J,
  • Chen D,
  • Jiang C,
  • Zeng L,
  • Qiu Y,
  • Xia BW

Journal volume & issue
Vol. Volume 16
pp. 2225 – 2232

Abstract

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Xuefang Liu,* Suyan Li,* Jingni Xiong, Dandan Chen, Chan Jiang, Liankun Zeng, Youyan Qiu,* Bi-Wen Xia* Department of Endocrine Medicine, The Fourth Affiliated Hospital of Guangzhou Medical University, Guangzhou, People’s Republic of China*These authors contributed equally to this workCorrespondence: Youyan Qiu; Bi-Wen Xia, Department of Endocrine Medicine, The Fourth Affiliated Hospital of Guangzhou Medical University, No. 1 Guangming East Road, Zengjiang Street, Zengcheng District, Guangzhou City, Guangdong, 511330, People’s Republic of China, Tel +86-020-62287186, Email [email protected]; [email protected]: Thyroxine binding globulin (TBG) deficiency is a rare thyroid disease, mostly caused by genetic mutations and acquired by X-linked recessive inheritance. The clinical features of children with TBG deficiency and their family members were summarised and the Serpina7 gene mutation was analysed, providing a reference for the differentiation of TBG deficiency.Methods: Thyroid function was detected in TBG deficient patients, and genetic analysis was performed using polymerase chain reaction (PCR) and direct DNA sequencing to detect the characteristics of TBG mutants. Using “thyroxine binding globulin, gene and mutation” as keywords, PubMed (biomedical literature database), Web of Science and other databases were searched for relevant studies to collect and summarise relevant information.Results: The TBG (14.7 μg/mL), 70% triiodothyronine (T3) ( T; the patient was heterozygous and the father was hemizygous. The literature search retrieved a total of 45 studies, most of which were related to mutations in the Serpina7 gene. The mutation locations included exons, introns, enhancers and promoters, with exons the predominant location. A total of 49 variants of the Serpina7 gene were identified.Conclusion: Serpina7 C.909G (P.L303F) is a mutation acquired from the father by X-linked recessive inheritance. The main clinical features of TBG deficiency patients are low serum T4, T3 and TBG levels, normal TSH, FT3 and FT4 levels, and no clinical manifestations.Keywords: thyroxine-binding globulin, deficiency, genes, mutation

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