Two Autonomous Nodules of a Patient with Multinodular Goiter Harbor Different Activating Mutations of the Thyrotropin Receptor Gene

1997 ◽  
Vol 82 (1) ◽  
pp. 306-308 ◽  
Author(s):  
L. Duprez
Keyword(s):  
Multinodular Goiter ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Activating Mutations

scholarly journals Two Autonomous Nodules of a Patient with Multinodular Goiter Harbor Different Activating Mutations of the Thyrotropin Receptor Gene1

1997 ◽  
Vol 82 (1) ◽  
pp. 306-308
Author(s):  
Laurence Duprez ◽  
Jacques Hermans ◽  
Jacqueline Van Sande ◽  
Jacques E. Dumont ◽  
Gilbert Vassart ◽  
...  
Keyword(s):  
Multinodular Goiter ◽  
Thyrotropin Receptor ◽  
Activating Mutations

scholarly journals Case Reports of Familial Non-autoimmune Hyperthyroidism in Two Malaysian Families due to Germline-activating Mutations in the Thyrotropin Receptor Gene

2020 ◽  
Vol 16 (1) ◽  
pp. 42
Author(s):  
Noor Shafina Mohd Nor ◽  
Wu Loo Ling ◽  
Johari Mohd Ali ◽  
◽  
◽  
...  
Keyword(s):  
Case Reports ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Activating Mutations

scholarly journals Identification of Constitutively Activating Somatic Thyrotropin Receptor Mutations in a Subset of Toxic Multinodular Goiters1

1997 ◽  
Vol 82 (12) ◽  
pp. 4229-4233 ◽  
Author(s):  
Hans-Peter Holzapfel ◽  
Dagmar Führer ◽  
Peter Wonerow ◽  
Gerhard Weinland ◽  
Werner A. Scherbaum ◽  
...  
Keyword(s):  
Multinodular Goiter ◽  
The Other ◽  
Tsh Receptor ◽  
Surrounding Tissue ◽  
Additional Patient ◽  
Thyrotropin Receptor ◽  
Activating Mutations ◽  
Gsα Gene ◽  
Toxic Multinodular Goiter ◽  
Tshr Gene

Constitutively activating mutations in the TSH receptor (TSHR) gene and in the Gsα gene are frequent molecular causes for solitary toxic nodules of the thyroid. However, the etiology of toxic multinodular goiter is still largely unknown. Therefore, DNA from nodular and quiescent surrounding tissue of six patients with toxic multinodular goiters was screened for mutations in exons 9 and 10 of the TSHR gene and exons 7–10 of the Gsα gene by direct automated sequencing. In one patient, two different somatic TSHR mutations were identified in two different toxic nodules (L632I and F631L). In another patient, two different toxic nodules harbored the same TSHR mutation (I630L), whereas only one TSHR mutation (F631L) was identified in one of the two toxic nodules of an additional patient. In the other three patients, no mutations could be found in exons 9 and 10 of the TSHR gene or in exons 7–10 of the Gsα gene. Our results demonstrate that not only solitary toxic adenomas but also toxic multinodular goiters can be caused by constitutively activating mutations of the TSHR. In addition to mutations in the TSHR and possibly in Gsα, there are probably other still unknown mechanisms that cause hot nodules in toxic multinodular goiters.

scholarly journals Absence of common activating mutations of the epidermal growth factor receptor gene in thyroid cancers from American and Japanese patients

2011 ◽  
Vol 130 (9) ◽  
pp. 2215-2217 ◽  
Author(s):  
Julio C. Ricarte-Filho ◽  
Michiko Matsuse ◽  
Christopher Lau ◽  
Mabel Ryder ◽  
Eijun Nishihara ◽  
...  
Keyword(s):  
Epidermal Growth Factor Receptor ◽  
Growth Factor ◽  
Epidermal Growth Factor ◽  
Receptor Gene ◽  
Growth Factor Receptor ◽  
Japanese Patients ◽  
Thyroid Cancers ◽  
Activating Mutations ◽  
Epidermal Growth

scholarly journals Update on the etiology, diagnosis and therapeutic management of sexual precocity

2008 ◽  
Vol 52 (1) ◽  
pp. 18-31 ◽  
Author(s):  
Vinicius Nahime Brito ◽  
Ana Claudia Latronico ◽  
Ivo J. P. Arnhold ◽  
Berenice Bilharinho Mendonça
Keyword(s):  
Precocious Puberty ◽  
Sex Steroids ◽  
Therapeutic Option ◽  
Receptor Gene ◽  
Pubertal Development ◽  
Protein A ◽  
Activating Mutations ◽  
Sexual Precocity ◽  
Gonadotropic Axis ◽  
Hormonal Evaluation

Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic-pituitary-gonadal axis and mimics the physiological pubertal development, although at an inadequate chronological age. Hormonal evaluation, mainly through basal and GnRH-stimulated LH levels shows activation of the gonadotropic axis. Gonadotropin-independent precocious puberty (GIPP) is the result of the secretion of sex steroids, independently from the activation of the gonadotropic axis. Several genetic causes, including constitutive activating mutations in the human LH-receptor gene and activating mutations in the Gs protein a-subunit gene are described as the etiology of testotoxicosis and McCune-Albright syndrome, respectively. The differential diagnosis between GDPP and GIPP has direct implications on the therapeutic option. Long-acting gonadotropin-releasing hormone (GnRH) analogs are the treatment of choice in GDPP. The treatment monitoring is carried out by clinical examination, hormonal evaluation measurements and image studies. For treatment of GIPP, drugs that act by blocking the action of sex steroids on their specific receptors (cyproterone, tamoxifen) or through their synthesis (ketoconazole, medroxyprogesterone, aromatase inhibitors) are used. In addition, variants of the normal pubertal development include isolated forms of precocious thelarche, precocious pubarche and precocious menarche. Here, we provide an update on the etiology, diagnosis and management of sexual precocity.

scholarly journals A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation

2014 ◽  
Vol 75 (6) ◽  
pp. 749-753 ◽  
Author(s):  
Akie Nakamura ◽  
Shuntaro Morikawa ◽  
Hayato Aoyagi ◽  
Katsura Ishizu ◽  
Toshihiro Tajima
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Japanese Family

scholarly journals A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Brenda Kohn ◽  
Helmut Grasberger ◽  
Leslie L. Lam ◽  
Alfonso Massimiliano Ferrara ◽  
Samuel Refetoff
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Toxic Adenoma ◽  
Gain Of Function
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