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. 1970 Jul 4;3(5713):27–29. doi: 10.1136/bmj.3.5713.27

Familial Thyroxine-binding Globulin Deficiency

P Torkington, R J Harrison, N F Maclagan, David Burston
PMCID: PMC1700976  PMID: 4987801

Abstract

Genetically determined thyroxine-binding globulin deficiency is described in two families in the United Kingdom. All subjects in both pedigrees were euthyroid. Transmission was by sex-linkage; males showed low serum protein bound iodine and high thyroxine (T4) resin uptake due to complete absence of serum thryroxine-binding globulin; females were less severely affected. The distinctive biochemical results disclosed the diagnosis and emphasize that serum protein bound iodine levels should be interpreted carefully and tests, such as triiodothyroinine (T3) or T4 resin uptake, used to prevent erroneous diagnoses of hypothyroidism.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Howorth P. J., Maclagan N. F. Clinical application of serum-total-thyroxine estimation, resin uptake, and free-thyroxine index. Lancet. 1969 Feb 1;1(7588):224–228. doi: 10.1016/s0140-6736(69)91240-9. [DOI] [PubMed] [Google Scholar]
  2. Kraemer E., Wiswell J. G. Familial thyroxine-binding globulin deficiency. Metabolism. 1968 Mar;17(3):260–262. doi: 10.1016/0026-0495(68)90128-5. [DOI] [PubMed] [Google Scholar]
  3. Maclagan N. F., Howorth P. J. Thyroid function studies using resin uptake of radioactive thyronines from serum and total thyroxine assay; the free thyroxine index. Clin Sci. 1969 Aug;37(1):45–60. [PubMed] [Google Scholar]
  4. NICOLOFF J. T., DOWLING J. T., PATTON D. D. INHERITANCE OF DECREASED THYROXINE-BINDING BY THE THYROXINE-BINDING GLOBULIN. J Clin Endocrinol Metab. 1964 Mar;24:294–298. doi: 10.1210/jcem-24-3-294. [DOI] [PubMed] [Google Scholar]
  5. Nikolai T. F., Roberts R. C. Thyroxine binding globulin (TBG) deficiency. A problem in the diagnosis of thyroid disease. Arch Intern Med. 1969 Dec;124(6):691–694. [PubMed] [Google Scholar]
  6. Nikolai T. F., Seal U. S. X-chromosome linked familial decrease in thyroxine-binding globulin activity. J Clin Endocrinol Metab. 1966 Aug;26(8):835–841. doi: 10.1210/jcem-26-8-835. [DOI] [PubMed] [Google Scholar]
  7. Nikolai T. F., Seal U. S. X-chromosome linked inheritance of thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1967 Nov;27(11):1515–1520. doi: 10.1210/jcem-27-11-1515. [DOI] [PubMed] [Google Scholar]
  8. Refetoff S., Selenkow H. A. Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. N Engl J Med. 1968 May 16;278(20):1081–1087. doi: 10.1056/NEJM196805162782002. [DOI] [PubMed] [Google Scholar]
  9. TANAKA S., STARR P. A euthyroid man without thyroxine-binding globulin. J Clin Endocrinol Metab. 1959 Apr;19(4):485–487. doi: 10.1210/jcem-19-4-485. [DOI] [PubMed] [Google Scholar]
  10. Thorson S. C., Tauxe W. N., Taswell H. F. Evidence for the existence of two thyroxine-binding globulin moieties: correlation between paper and starch-gel electrophoretic patterns utilizing thyroxine-binding globulin-deficient sera. J Clin Endocrinol Metab. 1966 Feb;26(2):181–188. doi: 10.1210/jcem-26-2-181. [DOI] [PubMed] [Google Scholar]

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