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