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Larsen CC, Karaviti LP, Seghers V, et al. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):23doi: 10.1186/1687-9856-2014-23.
Larsen, C. C., Karaviti, L. P., Seghers, V., Weiss, R. E., Refetoff, S., & Dumitrescu, A. M. (2014). A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. International journal of pediatric endocrinology, 2014(1), 23. https://doi.org/10.1186/1687-9856-2014-23
Larsen, Cæcilie C, et al. "A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature." International journal of pediatric endocrinology vol. 2014,1 (2014): 23. doi: https://doi.org/10.1186/1687-9856-2014-23
Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014;2014(1):23. doi: 10.1186/1687-9856-2014-23. Epub 2014 Nov 17. PMID: 25873976; PMCID: PMC4396564.
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Int J Pediatr Endocrinol. 2014;2014(1):23. doi: 10.1186/1687-9856-2014-23. Epub 2014 Nov 17.

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.

International journal of pediatric endocrinology

Cæcilie C Larsen, Lefkothea P Karaviti, Victor Seghers, Roy E Weiss, Samuel Refetoff, Alexandra M Dumitrescu

Affiliations

  1. Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.
  2. Department of Pediatric, Texas Children's Hospital, Houston, TX 77030 USA.
  3. Department of Radiology, Texas Children's Hospital, Houston, TX 77030 USA.
  4. Department of Medicine, University of Miami, Miami, FL 33101 USA.
  5. Department of Medicine, The University of Chicago, Chicago, IL 60637 USA ; Department of Pediatrics, The University of Chicago, Chicago, IL 60637 USA ; Committee on Genetics, The University of Chicago, Chicago, IL 60637 USA.

PMID: 25873976 PMCID: PMC4396564 DOI: 10.1186/1687-9856-2014-23

Abstract

Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of the thyroid stimulating hormone receptor gene. This is the most common activating mutation in the thyroid stimulating hormone receptor gene with total of 13 patients harboring the mutation in four families. The similarities and differences among patients with the mutation in codon 431 are discussed. Furthermore all previously reported activating mutations in the thyroid stimulating hormone receptor gene are reviewed.

Keywords: Activating; Hyperthyroidism; Nonautoimmune; Pediatric; Radioiodine; Receptor mutation; Thyrotropin

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