Literature DB >> 28648513

Inheritable and sporadic non-autoimmune hyperthyroidism.

Carolina Ferraz1, Ralf Paschke2.   

Abstract

Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH). These three conditions: autonomic adenoma, FNAH and PSNAH constitute the inheritable and sporadic non-autoimmune hyperthyroidism. Particularities in epidemiology, etiology, molecular and clinical aspects of these three entities will be discussed in this review in order to guide to an accurate diagnosis allowing among others genetic counseling and presymptomatic diagnosis for the affected families. The optimal treatment based on the right diagnosis will avoid consequences of a persistent or relapsing hyperthyroidism. Crown
Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  activating TRHR mutation; autonomic adenomas; familial non-autoimmune hyperthyroidism; non-autoimmune hyperthyroidism; persistent sporadic congenital non-autoimmune hyperthyroidism

Mesh:

Substances:

Year:  2017        PMID: 28648513     DOI: 10.1016/j.beem.2017.04.005

Source DB:  PubMed          Journal:  Best Pract Res Clin Endocrinol Metab        ISSN: 1521-690X            Impact factor:   4.690


  7 in total

1.  Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Authors:  Jasna Suput Omladic; Maja Pajek; Urh Groselj; Katarina Trebusak Podkrajsek; Magdalena Avbelj Stefanija; Mojca Zerjav Tansek; Primoz Kotnik; Tadej Battelino; Darja Smigoc Schweiger
Journal:  Medicina (Kaunas)       Date:  2021-02-25       Impact factor: 2.430

2.  Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.

Authors:  A Malej; M Avbelj Stefanija; N Bratanič; K Trebušak Podkrajšek
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519

3.  An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.

Authors:  Jung Hyun Shin; Go Hun Seo; Seung Hwan Oh; Woo Yeong Chung; Hye Young Kim; Young Mi Kim; Mi Hye Bae; Kyung Hee Park; Min Jung Kwak
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-12-31

4.  Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism.

Authors:  Alexandra Stephenson; Zoya Punjwani; Markus Eszlinger; Beata Sawicka; Artur Bossowski; Ralf Paschke
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2021-12-01

Review 5.  The Mysterious Universe of the TSH Receptor.

Authors:  Inês Henriques Vieira; Dírcea Rodrigues; Isabel Paiva
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-12       Impact factor: 6.055

Review 6.  Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.

Authors:  Martin Bezdicka; Petra Kleiblova; Jiri Soucek; Marianna Borecka; Eva El-Lababidi; Daniel Smrz; Michal Rataj; Zdenek Sumnik; Jana Malikova; Ondrej Soucek
Journal:  Hormones (Athens)       Date:  2021-06-18       Impact factor: 2.885

7.  TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

Authors:  Leman Kayaş; Emine Çamtosun; Ayşehan Akıncı; Rıfat Bircan
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-01-14
  7 in total

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