Literature DB >> 19446102

Autonomous thyroid adenoma: only an adulthood disease?

Karl Otfried Schwab1, Nicole Pfarr, Natascha van der Werf-Grohmann, Martin Pohl, Jochen Rädecke, Thomas Musholt, Joachim Pohlenz.   

Abstract

We identified somatic activating thyrotropin-receptor gene mutations within autonomous thyroid nodules (ATN) in 2 girls with 1 ATN and in 1 girl with 3 ATN. A fourth patient had a somatic activating gene mutation of the alpha-subunit of the stimulating G-protein in 2 ATN. Activating somatic mutations in ATN can cause non-autoimmune hyperthyroidism in children.

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Year:  2009        PMID： 19446102     DOI： 10.1016/j.jpeds.2008.12.019

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  3 in total

Review 1.  Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer.

Authors:  Gary L Francis; Steven G Waguespack; Andrew J Bauer; Peter Angelos; Salvatore Benvenga; Janete M Cerutti; Catherine A Dinauer; Jill Hamilton; Ian D Hay; Markus Luster; Marguerite T Parisi; Marianna Rachmiel; Geoffrey B Thompson; Shunichi Yamashita
Journal:  Thyroid       Date:  2015-07       Impact factor: 6.568

2.  A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.

Authors:  James Blackburn; Dinesh Giri; Barbara Ciolka; Nicole Gossan; Mohammad Didi; George Kokai; Alison Waghorn; Matthew Jones; Senthil Senniappan
Journal:  Case Rep Genet       Date:  2018-10-17

3.  Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.

Authors:  Jay Nguyen; Dennis Joseph
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2022-03-01
  3 in total

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