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Thyroxine-binding globulin deficiency, partial

MedGen UID:
543596
•Concept ID:
C0271836
•
Disease or Syndrome
Synonym: X-linked reduction of thyroxine-binding globulin
SNOMED CT: X-linked reduction of thyroxine-binding globulin (41300001)

Recent clinical studies

Etiology

Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
Chen LD, Lu HJ, Gan YL, Pang SW, Zheng Q, Ye DM, Huang XY, Qi HN, Xu WB, Wen XZ, Li LH, Li L
J Endocrinol Invest 2020 Dec;43(12):1703-1710. Epub 2020 Apr 7 doi: 10.1007/s40618-020-01245-1. PMID: 32266677

Diagnosis

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
Heo J, Kim SM, Ryu HJ, Park H, Kim TH, Chung JH, Park HD, Kim SW
Endocrinol Metab (Seoul) 2022 Dec;37(6):870-878. Epub 2022 Dec 7 doi: 10.3803/EnM.2022.1591. PMID: 36475360Free PMC Article
Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene.
Sklate RT, Olcese MC, Maccallini GC, Sarmiento RG, Targovnik HM, Rivolta CM
Horm Metab Res 2014 Feb;46(2):100-8. Epub 2013 Dec 19 doi: 10.1055/s-0033-1358741. PMID: 24356794
Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family.
Miura Y, Mori Y, Kambe F, Tani Y, Oiso Y, Seo H
J Clin Endocrinol Metab 1994 Sep;79(3):740-4. doi: 10.1210/jcem.79.3.8077354. PMID: 8077354
Familial dysalbuminaemic hyperthyroxinaemia and inherited partial TBG deficiency: first report.
Langsteger W, Stockigt JR, Docter R, Költringer P, Lorenz O, Eber O
Clin Endocrinol (Oxf) 1994 Jun;40(6):751-8. doi: 10.1111/j.1365-2265.1994.tb02508.x. PMID: 8033365
Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi S, Yamaguchi K, Shichiri M
Endocrinol Jpn 1992 Dec;39(6):577-84. doi: 10.1507/endocrj1954.39.577. PMID: 1294376

Therapy

Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi S, Yamaguchi K, Shichiri M
Endocrinol Jpn 1992 Dec;39(6):577-84. doi: 10.1507/endocrj1954.39.577. PMID: 1294376
The Mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease.
Hill ME, Davies KE, Harper P, Williamson R
Hum Genet 1982;60(3):222-6. doi: 10.1007/BF00303007. PMID: 6286461

Prognosis

Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
Gomes-Lima CJ, Maciel AAFL, Andrade MO, Cunha VSD, Mazzeu JF, Bleicher L, Neves FAR, Lofrano-Porto A
Gene 2018 Aug 5;666:58-63. Epub 2018 May 4 doi: 10.1016/j.gene.2018.05.018. PMID: 29733970
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan.
Su CC, Wu YC, Chiu CY, Won JG, Jap TS
Clin Endocrinol (Oxf) 2003 Apr;58(4):409-14. doi: 10.1046/j.1365-2265.2003.01730.x. PMID: 12641622

Clinical prediction guides

Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
Gomes-Lima CJ, Maciel AAFL, Andrade MO, Cunha VSD, Mazzeu JF, Bleicher L, Neves FAR, Lofrano-Porto A
Gene 2018 Aug 5;666:58-63. Epub 2018 May 4 doi: 10.1016/j.gene.2018.05.018. PMID: 29733970
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan.
Su CC, Wu YC, Chiu CY, Won JG, Jap TS
Clin Endocrinol (Oxf) 2003 Apr;58(4):409-14. doi: 10.1046/j.1365-2265.2003.01730.x. PMID: 12641622
Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.
Shirotani T, Kishikawa H, Wake N, Miyamura N, Hashimoto Y, Motoyoshi S, Yamaguchi K, Shichiri M
Endocrinol Jpn 1992 Dec;39(6):577-84. doi: 10.1507/endocrj1954.39.577. PMID: 1294376

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