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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 health problems.

Thyroxine-binding globulin is one of three major proteins in the bloodstream that carries hormones made by the thyroid gland, 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). Thyroxine is the primary hormone produced by the thyroid gland. In the bloodstream, thyroxine and other thyroid hormones are typically attached (bound) to thyroxine-binding globulin and similar proteins. A shortage (deficiency) of thyroxine-binding globulin reduces the total amount of thyroxine in the blood.

Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the partial form and the complete form. The partial form reduces the amount of functioning thyroxine-binding globulin. The complete form causes a more significant loss of functioning thyroxine-binding globulin. These conditions typically do not cause problems with thyroid function and are usually identified when bloodwork is performed to rule out other conditions.

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

Professional guidelines

PubMed

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Curated

American College of Medical Genetics ACT SHEET, Congenital Hypothyroidism, 2024

American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2024

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
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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

Diagnosis

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Leung AK, McArthur RG, Ross SA, McMillan DD, Sauve RS
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Nikolai TF
J Pediatr 1969 Jul;75(1):130-2. doi: 10.1016/s0022-3476(69)80114-9. PMID: 4182951

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
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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

Table of contents

    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, 2024
      American College of Medical Genetics ACT SHEET, Congenital Hypothyroidism, 2024
    • ACMG Algorithm, 2024
      American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2024

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