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Review
. 2017 Jun;46(2):375-388.
doi: 10.1016/j.ecl.2017.01.005. Epub 2017 Mar 6.

Defects of Thyroid Hormone Synthesis and Action

Zeina C Hannoush  1 , Roy E Weiss  2
Affiliations
Review

Defects of Thyroid Hormone Synthesis and Action

Zeina C Hannoush et al. Endocrinol Metab Clin North Am. 2017 Jun.

Abstract

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.

Keywords: Congenital hypothyroidism; Deiodinase; Dysgenesis; Dyshormonogenesis; Goiter; Resistance to thyroid hormone; Thyroid hormone receptors.

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Figures

Fig. 1
Fig. 1
Algorithm for Genetic Screening for Disorders of TH Synthesis. See text for abbreviations.
Fig. 2
Fig. 2
Algorithm for Genetic Screening for Disorders of TH Action. See text for abbreviations.
See this image and copyright information in PMC

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