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

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 mu g/kg/day or 186.0 mu g/m(2)/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 long-term 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.