Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.

doi:10.1515/CCLM.1998.117

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Article

Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.

Clinical chemistry and laboratory medicine - 1 Aug 1998

Tatsumi K, Miyai K, Amino N

Abstract excerpt

We have elucidated the molecular pathology of three types of congenital hypothyroidism. Thyrotropin (TSH) is the major regulator of thyroid function. In cases of isolated congenital TSH deficiency, we found that they are caused by a missense mutation in the conserved CAGYC region of the TSHbeta g...

Topics

Carrier Proteins
Congenital Hypothyroidism
Humans
Hypothyroidism
Membrane Proteins
Mutation
Phospholipid Transfer Proteins
Symporters
Thyrotropin

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