PMID: 18406781Jan 1, 1997Paper

Familial Congenital Hypothyroidism Caused by Abnormal and Bioinactive TSH due to Mutations in the beta-Subunit Gene

Trends in Endocrinology and Metabolism : TEM
Geraldo Medeiros-NetoF E Wondisford

Abstract

Hereditary TSH deficiency is a rare autosomal recessive disease described in inbred Japanese families and in Greek and Brazilian kindreds. The TSH-beta-subunit gene has been shown to be the site of mutations that will give rise to truncated proteins that cannot dimerize with the alpha subunit or, alternatively, will produce a mutated TSH that is present in the circulation of the affected patients, but it is biologically inactive. Characteristically, the patients with TSH-beta-subunit-defects are born with congenital hypothyroidism, with very low levels of serum thyroid hormones and serum thyroglobulin and, paradoxically, with serum TSH levels that are consistently undetectable or at very low levels. Goiter is not present at birth, but the low radioactive thyroid uptake will increase after bovine TSH stimulation. Other pituitary hormones responses to provocative tests are normal. The subunit levels are at high concentration and are significantly increased following TRH stimulation. In two kindreds, molecular biological studies have indicated mutations in two different sites of exon 2, generating a peptide that would not dimerize with subunits to synthesize TSH molecules. In one kindred, a truncated TSH-beta protein was translate...Continue Reading

References

Jan 16, 1992·The New England Journal of Medicine·J WeissJ L Jameson
Oct 1, 1990·The Journal of Clinical Endocrinology and Metabolism·Y HayashizakiA Labbe
Jun 1, 1988·Endocrinologia Japonica·K MiyaiY Hayashizaki
Mar 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·N C DracopoliI A Kourides
Nov 4, 1971·The New England Journal of Medicine·K MiyaiY Kumahara
Jan 1, 1981·Annual Review of Biochemistry·J G Pierce, T F Parsons
Mar 1, 1996·The Journal of Clinical Investigation·G Medeiros-NetoF E Wondisford

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Citations

Oct 16, 2003·Thyroid : Official Journal of the American Thyroid Association·Meyer Knobel, Geraldo Medeiros-Neto
Jun 18, 2010·Thyroid : Official Journal of the American Thyroid Association·Helton E RamosMichel Polak
Sep 1, 2009·Endocrinology and Metabolism Clinics of North America·Alfred Tenore, Daniela Driul
Nov 4, 2000·The Journal of Clinical Endocrinology and Metabolism·L PersaniP Beck-Peccoz
Nov 22, 2020·Pharmacological Reviews·Torsten Schöneberg, Ines Liebscher

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