Defects of Thyroid Hormone Synthesis and Action.

Autor:	Hannoush ZC; Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th Street, Suite 310F, Miami, FL 33136, USA., Weiss RE; Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th Street, Suite 310F, Miami, FL 33136, USA. Electronic address: rweiss@med.miami.edu.
Jazyk:	angličtina
Zdroj:	Endocrinology and metabolism clinics of North America [Endocrinol Metab Clin North Am] 2017 Jun; Vol. 46 (2), pp. 375-388. Date of Electronic Publication: 2017 Mar 06.
DOI:	10.1016/j.ecl.2017.01.005
Abstrakt:	Congenital hypothyroidism (CH) is the most common inborn endocrine disorder and causes significant morbidity. To date, we are only aware of the molecular basis responsible for the defects in a small portion of patients with CH. A better understanding of the pathophysiology of these cases at the genetic and molecular basis provides useful information for proper counseling to patients and their families a well as for the development of better targeted therapies. This article provides a succinct outline of the pathophysiology and genetics of the known causes of thyroid dysgenesis, dyshormonogenesis, and syndrome of impaired sensitivity to thyroid hormone. (Copyright © 2017 Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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