Defects of Thyroid Hormone Synthesis and Action

Publication date: Available online 6 March 2017
Source:Endocrinology and Metabolism Clinics of North America
Author(s): Zeina C. Hannoush, Roy E. Weiss

Teaser

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 review 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.


http://ift.tt/2n4iBf3