Monogenic Thyroid Disorder.
10.11106/jkta.2012.5.2.83
- Author:
Sun Wook CHO
1
;
Young Joo PARK
Author Information
1. Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. yjparkmd@snu.ac.kr
- Publication Type:Review
- Keywords:
Monogenic disorder;
Congenital hypothyroidism;
Congenital hyperthyroidism;
Thyroid hormone resistance syndrome
- MeSH:
Congenital Hypothyroidism;
Early Diagnosis;
Hyperthyroidism;
Thyroid Gland;
Thyroid Hormone Resistance Syndrome
- From:Journal of Korean Thyroid Association
2012;5(2):83-93
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could provide an informative knowledge to the understanding of related pathophysiology. Thyroid monogenic disorder could occur in various steps, such as thyroid development, hormonogenesis, TSH-receptor signaling, thyroid hormone transport and end organ response. Here, we reviewed of congenital hypothyroidism, congenital hyperthyroidism and thyroid hormone resistance syndrome.
