J Korean Soc Pediatr Endocrinol.  2009 Dec;14(2):87-93.

Molecular Aspects of Congenital Hypothyroidism

• Choi JH

Abstract

Recent studies have identified molecular genetic defects in some cases of congenital hypothyroidism as well as in a few cases of central hypothyroidism. These studies have brought to light hitherto unexplained forms of both these disorders. In spite of early diagnosis by screening of newborns infants and early treatment, some patients with congenital hypothyroidism do not show normal mental development. This finding was subsequently attributed to molecular defects in transcription factors, which are important for both the embryonic development of the thyroid gland as well as the development of other organs, including the organs of the central nervous system (CNS). These findings will facilitate the understanding of the critical role of thyroid hormones in pre- and postnatal CNS development. However, the molecular basis of thyroid dysgenesis in most cases remains to be elucidated, and the identification and analysis of familial cases will be very useful for defining additional mechanisms of thyroid dysgenesis. In fact, these studies may provide crucial evidence for genetic counseling, as suggested by the possible dominant mode of inheritance of some forms of congenital hypothyroidism. This review focuses on the most recent advance in our understanding of the molecular basis of primary congenital hypothyroidism.

Keyword

Congenital hypothyroidism; Dyshormonogenesis; Dysgenesis; TSH resistance syndrome; Thyroid hormone resistance

MeSH Terms

Central Nervous System
Congenital Hypothyroidism
Early Diagnosis
Embryonic Development
Female
Genetic Counseling
Humans
Hypothyroidism
Infant
Infant, Newborn
Light
Mass Screening
Molecular Biology
Pregnancy
Thyroid Dysgenesis
Thyroid Gland
Thyroid Hormone Resistance Syndrome
Thyroid Hormones
Transcription Factors
Wills
Thyroid Hormones
Transcription Factors