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Thyroid gland

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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  1. 1.

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

  2. 2.

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

  3. 3.

    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).

  4. 4.

    et al. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid (2015).

  5. 5.

    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).

  6. 6.

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

  7. 7.

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

  8. 8.

    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).

  9. 9.

    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).

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  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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The authors declare no competing financial interests.

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Correspondence to V. Krishna Chatterjee.

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