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. 1972 Aug;47(254):635–638. doi: 10.1136/adc.47.254.635

X-Chromosome Linked Inheritance of Decreased Thyroxine-binding Globulin

Paul Malvaux, Philippe De Nayer
PMCID: PMC1648253  PMID: 4625785

Abstract

Partial thyroxine-binding globulin (TBG) deficiency was observed in a euthyroid boy. A family study was conducted in order to trace the defect. Of the 15 members, 3 male subjects were found to be affected, whereas 6 female subjects were shown to be carriers of the trait. The inheritance pattern of the partial TBG deficiency was found to meet the criteria for X chromosome linked transmission. No association with other X-linked characters (colour blindness, glucose-6-phosphate dehydrogenase activity) was present. Karyotype analysis in the female subjects did not show any abnormality. TBG deficiency does not impair thyroid function. No difference was noted in free thyroxine levels in normal and affected subjects.

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Selected References

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  1. Bayley T. A., Higgins H. P., Row V. V., James W., Vidal R. The metabolic significance of thyroxine-binding globulin. Studies in a family with decreased thyroxine-binding globulin. Acta Endocrinol (Copenh) 1969 May;61(1):137–150. doi: 10.1530/acta.0.0610137. [DOI] [PubMed] [Google Scholar]
  2. Braverman L. E., Foster A. E., Ingbar S. H. Sex-related differences in the binding in serum of thyroid hormones. J Clin Endocrinol Metab. 1967 Feb;27(2):227–232. doi: 10.1210/jcem-27-2-227. [DOI] [PubMed] [Google Scholar]
  3. De Nayer P., Van den Schrieck H. G., De Visscher M. Le transport sérique de la thyroxine chez l'enfant. Ann Endocrinol (Paris) 1965 May-Jun;26(3):360–362. [PubMed] [Google Scholar]
  4. Heinonen O. P., Lamberg B. A., Virtamo J. Inherited decrease of the binding capacity of thyroxine-binding globulin (TBG). Acta Endocrinol (Copenh) 1970 May;64(1):171–180. doi: 10.1530/acta.0.0640171. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Levy R. P., Marshall J. S., Velayo N. L. Radioimmunoassay of human thyroxine-binding globulin (TBG). J Clin Endocrinol Metab. 1971 Mar;32(3):372–381. doi: 10.1210/jcem-32-3-372. [DOI] [PubMed] [Google Scholar]
  7. Malvaux P., De Nayer P., Beckers C., Van den Schrieck H. G., De Visscher M. Serum free thyroxine and thyroxine binding proteins in male adolescents. J Clin Endocrinol Metab. 1966 Apr;26(4):459–462. doi: 10.1210/jcem-26-4-459. [DOI] [PubMed] [Google Scholar]
  8. Marshall J. S., Levy R. P., Steinberg A. G. Human thyroxine-binding globulin deficiency. A genetic study. N Engl J Med. 1966 Jun 30;274(26):1469–1473. doi: 10.1056/NEJM196606302742604. [DOI] [PubMed] [Google Scholar]
  9. Moloshok R. E., Hsu L. Y., Seal U. S., Hirschhorn K. Partial thyroxine-binding globulin deficiency in a family. Pediatrics. 1969 Oct;44(4):518–525. [PubMed] [Google Scholar]
  10. 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]
  11. 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]
  12. 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]
  13. Nusynowitz M. L., Clark R. F., Strader W. J., 3rd, Estrin H. M., Seal U. S. Thyroxine-binding globulin deficiency in three families, and total deficiency in a normal woman. Am J Med. 1971 Apr;50(4):458–464. doi: 10.1016/0002-9343(71)90335-4. [DOI] [PubMed] [Google Scholar]
  14. OPPENHEIMER J. H., SQUEF R., SURKS M. I., HAUER H. BINDING OF THYROXINE BY SERUM PROTEINS EVALUATED BY EQUILIBRUM DIALYSIS AND ELECTROPHORETIC TECHNIQUES. ALTERATIONS IN NONTHYROIDAL ILLNESS. J Clin Invest. 1963 Nov;42:1769–1782. doi: 10.1172/JCI104862. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. 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]
  16. Roberts R. C., Nikolai T. F., Lohrenz F. N. A TBG-deficient family with a male exhibiting decreased but not zero TBG levels. J Clin Endocrinol Metab. 1970 Jan;30(1):131–133. doi: 10.1210/jcem-30-1-131. [DOI] [PubMed] [Google Scholar]
  17. Torkington P., Harrison R. J., Maclagan N. F., Burston D. Familial thyroxine-binding globulin deficiency. Br Med J. 1970 Jul 4;3(5713):27–29. doi: 10.1136/bmj.3.5713.27. [DOI] [PMC free article] [PubMed] [Google Scholar]

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