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Malignomrisiko bei angeborener Hypothyreose

Konnatale Hypothyreose, unauffällige Schilddrüse im Kindesalter und Schilddrüsenknoten im Jugendalter

Risk of malignancy in congenital hypothyroidism

Congenital hypothyroidism, normal thyroid gland in childhood, and thyroid nodules in adolescence

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Zusammenfassung

Wir berichten über 2 Brüder, die aufgrund einer angeborenen Hypothyreose mit Levothyroxin behandelt wurden. Die Sonographie der Schilddrüse erbrachte unauffällige Befunde im Kindesalter. Im Jugendalter waren sonographisch Schilddrüsenknoten zu verzeichnen. Molekulargenetisch konnte bei beiden Brüdern ein angeborener Defekt der Schilddrüsenhormonbiosynthese durch eine heterozygote Mutation im Schilddrüsenperoxidasegen (4 bp insGGCC Exon 8) festgestellt werden.

Abstract

We report on two brothers who were treated with levothyroxine for congenital hypothyroidism. In childhood, sonography of the thyroid gland revealed normal findings; in adolescence thyroid nodules were detected. Molecular studies diagnosed a congenital defect of thyroid hormone synthesis due to a heterozygote mutation, 4 bp insGGCC Exon 8, in the thyroid peroxidase gene in both brothers.

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Authors and Affiliations

  1. Vestische Kinder- und Jugendklinik Datteln, Universität Witten-Herdecke, Dr.-Friedrich-Steiner-Straße 5, 45711, Datteln, Deutschland

    G. de Sousa, R. Wunsch, T. Reinehr & W. Andler

  2. Universitätsklinik für Kinder- und Jugendmedizin, Rheinisch-Westfälische Technische Hochschule Aachen, Aachen, Deutschland

    B. Karges

  3. Zentrum für Kinder- und Jugendmedizin, Johannes Gutenberg-Universität Mainz, Mainz, Deutschland

    J. Pohlenz

Authors
  1. G. de Sousa
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  2. B. Karges
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  3. J. Pohlenz
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  4. R. Wunsch
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  5. T. Reinehr
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  6. W. Andler
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Corresponding author

Correspondence to G. de Sousa.

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de Sousa, G., Karges, B., Pohlenz, J. et al. Malignomrisiko bei angeborener Hypothyreose . Monatsschr Kinderheilkd 159, 202–205 (2011). https://doi.org/10.1007/s00112-009-2081-z

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  • DOI: https://doi.org/10.1007/s00112-009-2081-z

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