title: Molecular genetic defects in congenital hypothyroidism.
abstract: Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subsequently be explained by molecular defects of transcription factors (FOXE-1/FKHL15, NKX2.1) which are important not only for the embryonic development of the thyroid gland but also for other organs including the central nervous system (CNS). These findings will help in understanding the critical role of thyroid hormones in the pre-and postnatal CNS development. However, many questions regarding the molecular defects and their consequences in the majority of patients with CH still remain open and will be addressed in this article.
authors.affiliation: Paediatric Endocrinology, University Children's Hospital Charite, Augustenburger Platz 1, 13353 Berlin, Germany. annette.grueters@charite.de
authors.forename: Annette
authors.initials: A
authors.lastname: Grüters
authors.forename: Heiko
authors.initials: H
authors.lastname: Krude
authors.forename: Heike
authors.initials: H
authors.lastname: Biebermann
mesh_terms: D000818:Animals; D002490:Central Nervous System / Q000196:embryology; D003409:Congenital Hypothyroidism; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007031:Hypothalamus / Q000002:abnormalities; D007037:Hypothyroidism / Q000235:genetics*; D060850:LIM-Homeodomain Proteins; D051379:Mice; D010902:Pituitary Gland / Q000002:abnormalities; D013961:Thyroid Gland / Q000002:abnormalities / Q000196:embryology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D060850:LIM-Homeodomain Proteins; C094898:Lhx3 protein; C102134:Prophet of Pit-1 protein; D014157:Transcription Factors