Zusammenfassung
Die konnatale Hypothyreose ist gekennzeichnet durch eine fehlende oder mangelhafte Synthese der Schilddrüsenhormone und führt unbehandelt zu schwerer geistiger Retardierung. Pathogenetisch liegen dieser Erkrankung unterschiedliche Störungen zugrunde. Darunter sind angeborene tertiäre Hypothyreosen, d.h. gestörte hypothalamische Freisetzung des Thyreotropin-Releasing Hormons (TRH) und sekundäre Hypothyreosen, d.h. gestörte hypophysäre Freisetzung von thyreoidastimulierendem Hormon (TSH) selten. Demgegenüber liegt aber die Inzidenz der primären Hypothyreosen, die auf einer fehlerhaften oder fehlenden Anlage der Schilddrüse selbst beruhen, weltweit bei 1: 3000 bis 1: 4000. Damit gehören primäre konnatale Hypothyreosen zu den häufigsten angeborenen Stoffwechselstörungen. Familiäre Formen mit autosomal dominanten oder rezessiven Erbgängen sind bei ca. 2% nachweisbar. Die häufigste Ursache der primären konnatalen Hypothyreosen liegt in einer Störung der embryonalen Organogenese (Dysgenesie/Agenesie). Des-weiteren sind Störungen der Regulation der Schilddrüsenfunktion und Störungen der eigentlichen Hormonsynthese bzw. Hormonfreisetzung beschrieben.
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Grulich-Henn, J., Heinrich, U., Bettendorf, M. (2001). Mutationsananlytik bei angeborener Hypothyreose. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_18
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DOI: https://doi.org/10.1007/978-3-7091-6252-1_18
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