scholarly journals Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism

Thyroid ◽  
2020 ◽  
Vol 30 (5) ◽  
pp. 780-782 ◽  
Author(s):  
Ryan Bruellman ◽  
Yui Watanabe ◽  
Reham Shareef ◽  
Mohamed A. Abdullah ◽  
Alexandra Dumitrescu ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Alu Element ◽  
Thyroglobulin Gene

scholarly journals Thyroglobulin Gene Mutations in Congenital Hypothyroidism

2011 ◽  
Vol 75 (5) ◽  
pp. 311-321 ◽  
Author(s):  
Héctor M. Targovnik ◽  
Cintia E. Citterio ◽  
Carina M. Rivolta
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroglobulin Gene

New Heterozygous Mutations in Thyroglobulin Gene in Patients with Congenital Hypothyroidism

2011 ◽  
pp. P3-610-P3-610
Author(s):  
Ester Saraiva Brust ◽  
Cristine Barboza Beltrao ◽  
Tomoco Watanabe ◽  
Maria Cristina Chammas ◽  
Suemi Marui
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroglobulin Gene

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine ◽  
2013 ◽  
Vol 45 (2) ◽  
pp. 206-212 ◽  
Author(s):  
Hakan Cangul ◽  
Kristien Boelaert ◽  
Murat Dogan ◽  
Yaman Saglam ◽  
Michaela Kendall ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Thyroglobulin Gene

scholarly journals A Novel mutation in the Thyroglobulin Gene resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean infant

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Eve Stern ◽  
Nadia Schoenmakers ◽  
Adeline K. Nicholas ◽  
Eran Kassif ◽  
Orit Pinhas Hamiel ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Novel Mutation ◽  
Thyroglobulin Gene

scholarly journals Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Toshio Kahara ◽  
Noboru Igarashi ◽  
Akira Hishinuma ◽  
Yuko Nakanishi ◽  
Akio Uchiyama ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Elevated Serum ◽  
Gene Mutations ◽  
Thyroid Scintigraphy ◽  
Serum Thyroglobulin ◽  
Hyperplastic Nodule ◽  
Thyroglobulin Gene ◽  
Cold Nodule

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

2007 ◽  
Vol 67 (3) ◽  
pp. 351-357 ◽  
Author(s):  
Mariela Caputo ◽  
Carina M. Rivolta ◽  
Sebastían A. Esperante ◽  
Laura Gruñeiro-Papendieck ◽  
Ana Chiesa ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroglobulin Gene ◽  
New Mutations

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

2012 ◽  
Vol 348 (1) ◽  
pp. 313-321 ◽  
Author(s):  
Héctor M. Targovnik ◽  
Thomas Edouard ◽  
Viviana Varela ◽  
Maithé Tauber ◽  
Cintia E. Citterio ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Splice Site ◽  
Donor Splice Site ◽  
Novel Mutations ◽  
Donor Splice ◽  
Thyroglobulin Gene ◽  
Exon 19

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

2016 ◽  
Vol 423 ◽  
pp. 60-66 ◽  
Author(s):  
Xuyun Hu ◽  
Rongyu Chen ◽  
Chunyun Fu ◽  
Xin Fan ◽  
Jin Wang ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Thyroglobulin Gene

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism

2002 ◽  
Vol 110 (2) ◽  
pp. 145-147 ◽  
Author(s):  
Bodil Ahlbom ◽  
Muhammad Yaqoob ◽  
Peter Gustavsson ◽  
Hafez Abbas ◽  
Göran Annerén ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Congenital Hypothyroidism ◽  
Gene Region ◽  
Major Locus ◽  
Thyroglobulin Gene

scholarly journals Phenotypic Variation Among Four Family Members with Congenital Hypothyroidism Caused by Two Distinct Thyroglobulin Gene Mutations

Thyroid ◽  
2008 ◽  
Vol 18 (7) ◽  
pp. 783-786 ◽  
Author(s):  
Viviane Pardo ◽  
Ileana G.S. Rubio ◽  
Meyer Knobel ◽  
Manoel H. Aguiar-Oliveira ◽  
Marcos M. Santos ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Phenotypic Variation ◽  
Family Members ◽  
Gene Mutations ◽  
Thyroglobulin Gene
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