Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism

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Küçük Resim

Tarih

2010

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Elsevier Ireland Ltd

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). Up to date 17 constitutively activating TSHR mutations have been reported in 24 families with FNAH. The diagnosis of FNAH should be considered in cases with a positive family history, early onset of hyperthyroidism, goiter, absence of clinical stigmata of autoimmunity and recurrent hyperthyroidism. Moreover, 14 subjects with sporadic non-autoimmune hyperthyroidism and 10 different TSH receptor germline mutations have been reported. The main characteristic of SNAH is a negative family history. Additional consequences of prolonged neonatal hyperthyroidism (mental retardation, speech disturbances and craniosynostosis) have often been reported in SNAH. No genotype-phenotype relationship has been reported in patients with germline TSHR mutations. There is no association of in vitro activities determined by linear regression analysis (LRA) and several clinical indicators of hyperthyroidism activity for SNAH. However, the comparison of the LRA values of sporadic TSHR mutations with LRA values of familial TSHR mutations does show a significantly higher median LRA value for sporadic as compared to familial autosomal dominant hyperthyroidism. This finding is in line with the clinical impression of a more active clinical course in patients with SNAH. However, additional genetic, constitutional or environmental factors are most likely responsible for the phenotypic variations of the disease and the lack of correlation between in vitro activities of the TSHR mutations and the severity of hyperthyroidism. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

Açıklama

Anahtar Kelimeler

Germline TSH receptor mutations, Thyrotropin Receptor Gene, Activating Germline Mutation, Stimulating Hormone-Receptor, Term-Follow-Up, Tsh Receptor, Congenital Hyperthyroidism, Nonautoimmune Hyperthyroidism, Familial Hyperthyroidism, Expression, Thyrotoxicosis

Kaynak

Molecular and Cellular Endocrinology

WoS Q Değeri

Q2

Scopus Q Değeri

Q2

Cilt

322

Sayı

45323

Künye