Diagnose „Konnatale Hypothyreose” – früh stellen und dranbleiben!

Zusammenfassung

Schwere mentale und körperliche Retardierung sind bekannte Folgen einer nicht behandelten primären Hypothyreose. Seit Einführung des erweiterten Neugeborenenscreenings in Deutschland sehen wir das gesamte Ausmaß dieser Folgeerscheinungen erfreulicherweise kaum noch. Wir berichten hier über ein Mädchen, welches trotz gestellter Diagnose im Neugeborenenscreening und umgehend eingeleiteter Behandlung mit initialer Normalisierung der Serumparameter unter extremem Kleinwuchs sowie weiteren Auswirkungen einer manifesten Hypothyreose litt.

Summary

Serious mental and physical retardation are common effects of untreated congenital hypothyroidism. These aftereffects became rarely since the introduction of neonatal screening in Germany. This report is about a girl, which suffers from an extreme short stature and some other effects of a congenital hypothyroidism although she was treated directly after positive neonatal screening.

Schlüsselwörter

Konnatale Hypothyreose - Neugeborenenscreening - primäre angeborene Hypothyreose

Keywords

Congenital hypothyroidism - neonatal screening

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