Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”)

Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To specify the indication for interruption of therapy, we analysed the German registry “HypoDo...

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Hauptverfasser: Matejek, Nicola (VerfasserIn) , Tittel, Sascha R. (VerfasserIn) , Haberland, Holger (VerfasserIn) , Rohrer, Tilman (VerfasserIn) , Busemann, Eva-Maria (VerfasserIn) , Jorch, Norbert (VerfasserIn) , Schwab, Karl Otfried (VerfasserIn) , Wölfle, Joachim (VerfasserIn) , Holl, Reinhard W. (VerfasserIn) , Bettendorf, Markus (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 25 March 2021
In: European journal of pediatrics
Year: 2021, Jahrgang: 180, Heft: 8, Pages: 2401-2408
ISSN:1432-1076
DOI:10.1007/s00431-021-04031-0
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00431-021-04031-0
Verlag, kostenfrei, Volltext: https://link.springer.com/10.1007/s00431-021-04031-0
Volltext
Verfasserangaben:Nicola Matejek, Sascha R. Tittel, Holger Haberland, Tilman Rohrer, Eva-Maria Busemann, Norbert Jorch, Karl-Otfried Schwab, Joachim Wölfle, Reinhard W. Holl, Markus Bettendorf

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520 |a Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To specify the indication for interruption of therapy, we analysed the German registry “HypoDok” for infants with CH, which oversees 1625 patients from 49 participating centres in Germany and Austria from 1997 until today. A total of 357 patients with a thyroid gland in loco typico were identified and retrospectively grouped according to cessation (TCH, n = 24) or continuation (PCH, n = 333) of L-thyroxine (L-T4) treatment at 2 years of age. The receiver operating characteristic (ROC) analysis was performed to identify cutoffs predicting TCH by screening TSH concentrations and L-T4 dosages. Gestational ages, birth weights and prevalence of associated malformations were comparable in both groups. The cutoff screening TSH concentration was 73 mU/L. The cutoff daily L-T4 dosage at 1 year was 3.1 μg/kg (90% sensitivity, 63% specificity; 36 μg/day) and at 2 years of age 2.95 μg/kg (91% sensitivity, 59% specificity; 40 μg/day). At 2 years of age, specificity (71%) increased when both of these parameters were considered together. 
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