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Genetic Basis of Congenital Hypothyroidism: Abnormalities in the TSHβ Gene, the PIT1 Gene, and the NIS Gene by Ke-ita Tatsumi; Kiyoshi Miyai; Nobuyuki Amino is a Medicine article available to read on EtoBox.

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## Abstract 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 __TSHβ__ gene. Pit-1/GHF-1 is a pituitary specific POU-domain DNA binding factor, which transactivates the growth hormone (GH), prolactin (PRL), __TSHβ__ genes, and the __PIT1__ gene itself. In cases of combined deficiency of GH, PRL, and TSH, we found that they are caused by abnormalities in the __PIT1__ gene, either recessively or dominantly. Sodium dependent iodide symporter (NIS) actively transports iodide into the thyroid cells to produce thyroid hormones. In cases of iodide transport defect, we elucidated that a missense mutation in the transmembrane region of the __NIS__ gene caused them.

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Author

Ke-ita Tatsumi; Kiyoshi Miyai; Nobuyuki Amino

Publisher

Walter de Gruyter GmbH

Published

1998

Language

EN

Field

Medicine (Health Sciences)