Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years.

Status and school achievement of 129 children born in Hessen between 1988 and 1992 and notified by a repeatedly elevated concentration of TSH in neonatal screening were evaluated. Interviews of mothers, teachers and pediatricians were used to score the development and educational achievements, respectively. A total of 298,175 newborns were screened and the incidence of permanent congenital hypothyroidism (PCH) was 1: 3,313 (n = 90). The female/male ratio was 1.37:1. In the 69 PCH cases with complete data, athyreosis (52%), hypoplasia (32%), dyshormogenesis (9%) and ectopia (7%) were identified as etiologies. The mean age at start of therapy decreases from day 15 in 1988 to day 9 in 1992; however, 27% of PCH children showed reduced psychomotor development as scored by their pediatrician and 11% attended a special school for educationally subnormal children. Approximately 25% of the children had lower educational achievements irrespective of the school type. Our finding of a relatively high percentage of PCH children with subnormal development points to a failure in disease management. A follow-up program including repeated serum TSH monitoring and yearly examinations by pediatric endocrinologists and supervision by the regional screening center is necessary to ensure the long-term efficacy of neonatal screening for congenital hypothyroidism.