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TSHR mutations and subclinical congenital hypothyroidism

Nature Reviews Endocrinology volume 11, pages 258259 (2015) | Download Citation

Resistance to TSH that results from mutations in TSHR causes overt or subclinical congenital hypothyroidism (SCH). Tenenbaum-Rakover et al. now demonstrate that thyroid hormone levels remain stable in patients with heterozygous TSHR mutations who have SCH, but can decline progressively in some patients with homozygous TSHR mutations, which necessitates treatment with levothyroxine.

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Author information

Affiliations

  1. University of Cambridge Metabolic Research Laboratories, Level 4, Wellcome Trust–MRC Institute of Metabolic Science, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

    • Nadia Schoenmakers
    •  & V. Krishna Chatterjee

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Competing interests

The authors declare no competing financial interests.

Corresponding author

Correspondence to V. Krishna Chatterjee.

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DOI

https://doi.org/10.1038/nrendo.2015.27

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