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Thyroxine-binding globulin deficiency

MedGen UID:
374142
Concept ID:
C1839141
Disease or Syndrome
Synonym: Thyroxine-Binding Globulin Deficiency
 
Gene (location): SERPINA7 (Xq22.3)

Definition

Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems.

Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced.

Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones.

Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

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
Zwaveling-Soonawala N, van Trotsenburg ASP, Verkerk PH
J Clin Endocrinol Metab 2018 Apr 1;103(4):1342-1348. doi: 10.1210/jc.2017-01577. PMID: 29325028
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Diagnosis

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
Gawandi S, Jothivel K, Kulkarni S
J Endocrinol Invest 2022 Apr;45(4):731-739. Epub 2021 Nov 10 doi: 10.1007/s40618-021-01697-z. PMID: 34761328
Connelly KJ, Pierce MJ, Hanna C, LaFranchi SH
Horm Res Paediatr 2017;88(5):331-338. Epub 2017 Sep 14 doi: 10.1159/000479367. PMID: 28910808
Copping S, Byfield PG
Clin Endocrinol (Oxf) 1988 Jan;28(1):45-50. doi: 10.1111/j.1365-2265.1988.tb01202.x. PMID: 3139334
Torkington P, Harrison RJ, Maclagan NF, Burston D
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Therapy

Domingues R, Font P, Sobrinho L, Bugalho MJ
Endocrine 2009 Aug;36(1):83-6. Epub 2009 May 5 doi: 10.1007/s12020-009-9202-2. PMID: 19415532
Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M
J Clin Endocrinol Metab 2000 Oct;85(10):3687-9. doi: 10.1210/jcem.85.10.6899. PMID: 11061524
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
Heidemann PH, Stubbe P, Beck W
Eur J Pediatr 1981 Jul;136(3):291-5. doi: 10.1007/BF00442997. PMID: 6167443
Nusynowitz ML, Clark RF, Strader WJ 3rd, Estrin HM, Seal US
Am J Med 1971 Apr;50(4):458-64. doi: 10.1016/0002-9343(71)90335-4. PMID: 4102085

Prognosis

Fang Y, Chen H, Chen Q, Wang C, Liang L
Mol Genet Genomic Med 2021 Feb;9(2):e1571. Epub 2021 Feb 7 doi: 10.1002/mgg3.1571. PMID: 33554479Free PMC Article
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
Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S
J Clin Endocrinol Metab 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490. PMID: 25361180Free PMC Article
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
LaFranchi SH, Murphey WH, Foley TP Jr, Larsen PR, Buist NR
Pediatrics 1979 Feb;63(2):180-91. PMID: 108659

Clinical prediction guides

Fang Y, Chen H, Chen Q, Wang C, Liang L
Mol Genet Genomic Med 2021 Feb;9(2):e1571. Epub 2021 Feb 7 doi: 10.1002/mgg3.1571. PMID: 33554479Free PMC Article
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
Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S
J Clin Endocrinol Metab 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490. PMID: 25361180Free PMC Article
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
Refetoff S, Fang VS, Marshall JS, Robin NI
J Clin Invest 1976 Feb;57(2):485-95. doi: 10.1172/JCI108301. PMID: 56342Free PMC Article

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT Sheet, 2011
      American College of Medical Genetics ACT SHEET, Congenital Hypothyroidism, 2011
    • ACMG Algorithm, 2009
      American College of Medical Genetics Algorithm, Congenital Hypothyroidism (T4), 2009
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009

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