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Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Molecular and cellular endocrinology - 30 Jun 2010

Targovnik Héctor M, Esperante Sebastián A, Rivolta Carina M

Abstract excerpt

Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and...

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PMID: 20093166
DOI: 10.1016/j.mce.2010.01.009

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