Klin Padiatr 2015; 227(04): 199-205
DOI: 10.1055/s-0035-1549978
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Long-term Surveillance of Children with Congenital Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE “Hypo Dok”)

Langzeitbeobachtung von Kindern mit Konnataler Hypothyreose: Daten aus dem Deutschen Register für Konnatale Hypothyreose (AQUAPE ‚Hypo Dok‘)
V. L. Ellerbroek*
1   Children’s Hospital Schwabing, Pediatric Endocrinology, Munich, Germany
,
W. Bonfig*
1   Children’s Hospital Schwabing, Pediatric Endocrinology, Munich, Germany
,
H.-G. Dörr
2   Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany
,
M. Bettendorf
3   Pediatric Endocrinology and Diabetes, University Hospital Heidelberg, Heidelberg, Germany
,
B. Hauffa
4   Department of Pediatric Hematology, Oncology and Endocrinology, University Hospital Essen, Essen, Germany
,
S. Fricke-Otto
5   Departement of Pediatrics, Hospital Krefeld, Krefeld, Germany
,
T. Rohrer
6   Center of Pediatrics, Children’s University Hospital of Saarland, Homburg, Germany
,
F. Reschke
7   Pediatric Endocrinology, University of Dresden, Dresden, Germany
,
E. Schönau
8   Children’s University Hospital Cologne, Cologne, Germany
,
K. O. Schwab
9   Pediatric Endocrinology, University of Freiburg, Freiburg, Germany
,
K. Kapelari
10   Pediatric Endocrinology, University of Innsbruck, Innsbruck, Austria
,
F.-W. Röhl
11   Otto-von-Guericke University Magdeburg, Institute of Biometry and Medical Informatics, Magdeburg, Germany
,
K. Mohnike**
12   Department of Pediatrics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
,
R. W. Holl**
13   Central Institute for Biomedical Technology, University of Ulm, Ulm, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
03 June 2015 (online)

Abstract

Background: The German study group for quality assurance in pediatric endocrinology and the University of Ulm have established a software (“Hypo Dok”) for the documentation of longitudinal data of patients with congenital primary hypothyroidism (CH). Aim of this study was to analyse the long-term follow-up of patients with CH and to compare treatment with current guidelines.

Methods/Patients: Anonymised data of 1 080 patients from 46 centres were statistically analysed.

Results: Newborn screening result was available at a mean age of 7.3 days. Confirmation of the diagnosis was established at 8.4 days and therapy was started at 11 days. The average screening TSH was 180.0 mIU/L. During the first 3 months mean levothyroxine (LT4) dose was 10.7 µg/kg/day or 186.0 µg/m²/day. Weight-, BMI- and height-SDS did not differ significantly from the normal population. Only 25% of the patients (n=262) underwent formal EQ/IQ-testing. Their average IQ was 98.8±13.2 points.

Discussion: In Germany screening, confirmation and start of treatment of CH are within the recommended time frame of 14 days. Initial LT4-doses are adequate. The auxological longterm outcome of young CH patients is normal. The implementation of standardized IQ testing has to be improved in routine patient care.

Conclusion: Longitudinal data of patients with CH was analysed and compared to current guidelines. Confirmation and start of treatment are according to the recommendations. However standardised IQ testing requires improvement.

Zusammenfassung

Hintergrund: Die Arbeitsgruppe Qualitätssicherung der Arbeitsgemeinschaft Pädiatrische Endokrinologie (AQUAPE) und die Universität Ulm haben eine Datenbank („Hypo Dok”) für die Langzeitdokumentation von Daten von Patienten mit primärer konnataler Hypothyreose (CH) etabliert. Ziel dieser Studie war die Auswertung des Langzeitsverlaufs von Patienten mit CH und der Vergleich mit aktuellen Leitlinien.

Methoden/Patienten: Anonymisierte Daten von 1 080 Patienten aus 46 Behandlungszentren wurden einer statistischen Auswertung unterzogen.

Ergebnisse: Die Ergebnisse des Neugeborenenscreenings standen durchschnittlich bei einem Lebensalter von 7,3 Tagen zur Verfügung. Die Diagnose wurde im Alter von 8,4 Tagen bestätigt und die Therapie am 11. Lebenstag begonnen. Der mittlere TSH-Wert im Neugeborenenscreening betrug 180,0 mIU/L. Die durchschnittliche Levothyroxindosis (LT4) der ersten 3 Lebensmonate war 10,7 µg/kg/d oder 186,0 µg/m²/d. Gewichts-, BMI- und Größen-SDS unterschieden sich nicht signifikant von der Normalbevölkerung. Ein EQ-/IQ-Test wurde nur bei 25% (n=262) der Patienten durchgeführt. Der Durchschnitts-IQ lag bei 98,8±13,2 Punkten.

Diskussion: In Deutschland wird das Neugeborenenscreening, sowie die Konfirmationsdiagnostik und Therapieeinleitung innerhalb des empfohlenen Zeitraums von 2 Wochen durchgeführt. Initiale LT4-Dosen sind adäquat. Der auxiologische Langzeitverlauf junger CH Patienten ist normal. Die Einführung standardisierter IQ-Untersuchungen im klinischen Alltag bedarf einer Verbesserung.

Zusammenfassung: Langzeitdaten von Patienten mit CH wurden analysiert und mit aktuellen Leitlinien verglichen. Der Zeitpunkt der Konfirmationsdiagnostik und der Einleitung der LT4-Therapie entspricht den Leitlinien. Jedoch sollte die standardisierte IQ-Testung noch optimiert werden.

*  joint first authors.


**  joint senior authors.


 
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