Warning: mkdir(): Permission denied in /home/virtual/lib/view_data.php on line 81 Warning: fopen(/home/virtual/e-apem/journal/upload/ip_log/ip_log_2022-07.txt): failed to open stream: No such file or directory in /home/virtual/lib/view_data.php on line 83 Warning: fwrite() expects parameter 1 to be resource, boolean given in /home/virtual/lib/view_data.php on line 84 Molecular Aspects of Congenital Hypothyroidism.
J Korean Soc Pediatr Endocrinol Search

CLOSE


Ann Pediatr Endocrinol Metab > Volume 14(2); 2009 > Article
Molecular Aspects of Congenital Hypothyroidism.
Jin Ho Choi
Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. jhc@amc.seoul.kr
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.
Keywords: Congenital hypothyroidism;Dyshormonogenesis;Dysgenesis;TSH resistance syndrome;Thyroid hormone resistance


ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
#510, DoosanBearstel 381, Gangnam-daero, Seocho-gu, Seoul 06620, Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: kspe.editor@gmail.com                

Copyright © 2022 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next