Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Nongoitrous Congenital Hypothyroidism 2 - CHNG2 (Mutations of PAX8/TTF-1/TTF2)

  • Peter E. H. Schwarz
  • Jiang Li
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_1387


Thyroid dysgenesis; Thyroid agenesis; Thyroid hypoplasia; Thyroid ectopic; Hypothyroidism; Congenital due to thyroid dysgenesis; Hypothyroidism, athyreotic; Athyreotic hypothyroidism; Resistance to thyrotropin; Rtsh; Thyrotropin resistance

Definition and Characteristics

Congenital hypothyroidism is frequently (in 80–85% of cases) associated with thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). The most serious effect of untreated congenital hypothyroidism is mental retardation. Absolute arrest of linear growth and bone maturation may also occur. When thyroid hormone therapy is not initiated within the first 2 months of life, neurological complications, such as spasticity and gait abnormalities, dysarthria or mutism, and autistic behavior may develop.


In whites, CHNG2 affects 1 in 5,526 newborns. However, it is strikingly different in blacks: 1 in 32,377 [1].



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  1. 1.
    Brown AL et al. (1981) Racial differences in the incidence of congenital hypothyroidism. J Pediatr 99(6):934–936PubMedGoogle Scholar
  2. 2.
    Pasca di Magliano M, Lauro R, Di Zannini M (2000) Pax8 has a key role in thyroid cell differentiation. Proc Natl Acad Sci USA 97(24):13144–13149PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Peter E. H. Schwarz
    • 1
  • Jiang Li
    • 1
  1. 1.Technical University DresdenMedical Faculty Carl Gustav Carus, Medical Clinic IIIDresdenGermany