| Literature DB >> 28648513 |
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. CrownEntities:
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