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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 375-388 |
| Number of pages | 14 |
| Journal | Endocrinology and Metabolism Clinics of North America |
| Volume | 46 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jun 2017 |
Keywords
- Congenital hypothyroidism
- Deiodinase
- Dysgenesis
- Dyshormonogenesis
- Goiter
- Resistance to thyroid hormone
- Thyroid hormone receptors
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Endocrinology
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Cite this
Hannoush, Z. C., & Weiss, R. E. (2017). Defects of Thyroid Hormone Synthesis and Action. Endocrinology and Metabolism Clinics of North America, 46(2), 375-388. https://doi.org/10.1016/j.ecl.2017.01.005