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Case Reports in Pediatrics
Volume 2011, Article ID 369871, 4 pages
http://dx.doi.org/10.1155/2011/369871
Case Report

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

1Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
2Department of Pediatrics, Johannes Gutenberg University Medical School, Mainz, Germany
3Department of Pediatric Pulmonology, Clinic for Pediatric and Adolescent Medicine, University Lübeck, Lübeck, Germany
4Department of Radiology, St. Josefskrankenhaus Heidelberg, Freiburg, Germany

Received 9 September 2011; Accepted 4 October 2011

Academic Editor: F.-S. Lo

Copyright © 2011 Sarah Catharina Grünert et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for developmental delay and growth failure. We report on a girl with isolated central hypothyroidism due to a homozygous one-base pair deletion (T313del) in exon 3 of the TSHβ subunit gene. The molecular genetic and typical radiologic findings are discussed, and a systematic diagnostic workup for congenital central hypothyroidism is proposed. Physicians need to be aware of this rare condition to avoid diagnostic delay and to install prompt replacement therapy.