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Thyroid gland

TSHR mutations and subclinical congenital hypothyroidism

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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References

  1. Persani, L. et al. Genetics and phenomics of hypothyroidism due to TSH resistance. Mol. Cell. Endocrinol. 322, 72–82 (2010).

    Article  CAS  Google Scholar 

  2. Nicoletti, A. et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J. Clin. Endocrinol. Metab. 94, 4187–4194 (2009).

    Article  CAS  Google Scholar 

  3. Cassio, A. et al. Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment. J. Clin. Res. Pediatr. Endocrinol. 5 (Suppl. 1), 29–39 (2013).

    PubMed  PubMed Central  Google Scholar 

  4. Tenebaum-Rakover, Y. et al. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid http://dx.doi.org/10.1089/thy.2014.0311 (2015).

  5. Tenenbaum-Rakover, Y. et al. Loss of function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J. Clin. Endocrinol. Metab. 94, 1706–1712 (2009).

    Article  CAS  Google Scholar 

  6. Mizuno, H. et al. Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. Horm. Res. 71, 318–323 (2009).

    CAS  PubMed  Google Scholar 

  7. Tonacchera, M. et al. Thyroid resistance to TSH complicated by autoimmune thyroiditis. J. Clin. Endocrinol. Metab. 86, 4543–4546 (2001).

    Article  CAS  Google Scholar 

  8. Clifton-Bligh, R. J. et al. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J. Clin. Endocrinol. Metab. 82, 1094–1100 (1997).

    CAS  PubMed  Google Scholar 

  9. Kempers, M. J. et al. Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism. J. Clin. Endocrinol. Metab. 90, 4094–4100 (2005).

    Article  CAS  Google Scholar 

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Correspondence to V. Krishna Chatterjee.

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Schoenmakers, N., Chatterjee, V. TSHR mutations and subclinical congenital hypothyroidism. Nat Rev Endocrinol 11, 258–259 (2015). https://doi.org/10.1038/nrendo.2015.27

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