English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of the thyroid hormone receptor β (THRB) gene. We report here on a 36-years old male who had mild thyroid goiter and general weakness. The thyroid function test showed elevated levels of total T3 and free T4. The levels of TSH and the free α subunit were in normal ranges. Mutation analysis of the THRB gene revealed the missense mutation G345D. We report here on the clinical features and THRB gene mutation analysis of a case of RTH.

A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene