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Case Report
| Exp Clin Endocrinol Diabetes 2006; 114: 227-234
DOI: 10.1055/s-2006-924232 |
J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York |
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Initially Elevated TSH and Congenital Central Hypothyroidism Due to a Homozygous Mutation of the TSH Beta Subunit Gene: Case Report and Review of the Literature |
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| C.-J. Partsch1, F. G. Riepe2, N. Krone2, W. G. Sippell3, J. Pohlenz3 |
1 Klinik für Kinder und Jugendliche, Städtische Kliniken Esslingen, Esslingen, Germany
2 Klinik für Allgemeine Pädiatrie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany
3 Kinderklinik und Kinderpoliklinik, Johannes Gutenberg-Universität Mainz, Mainz, Germany |
Abstract
Congenital central hypothyroidism (CCH) is a rare disease which can be caused by mutations in the gene for the thyrotropin (TSH) β subunit (TSHB). The diagnosis is usually delayed because the TSH serum levels in these patients are not elevated leading to a negative result in the neonatal TSH screening. Herein, we report a 2-year-old girl with CCH due to a mutation in the TSHB gene, in whom the unusual finding of an initially elevated TSH level complicated the diagnostic workup. The proposita, who had a supposedly normal TSH screening result, is a German girl of non-consanguineous parents. At 5 weeks of age, her thyroid function tests showed peripheral hypothyroidism with a moderately increased TSH (23.8 µIU/ml) so that thyroid hormone substitution was initiated. At the age of 2 years, the administration of TRH failed to increase the TSH serum concentrations, which prompted TSH measurements with two different assay systems. Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. This was confirmed by molecular analysis of the TSHB gene, which identified a homozygous deletion (delta 313 T) in the coding sequence. This mutation has been found in the German population before and may be a founder mutation. We conclude that depending on the assay system variable TSH serum levels in individuals with mutations in the TSHB gene may complicate the diagnostic workup.
Key words
Central hypothyroidism - mental retardation - TSH
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