RESULTS OF THE SCREENING-PROGRAM FOR CONGENITAL HYPOTHYROIDISM IN BERLIN (1978-1995)

Screening for congenital hypothyroidism for all newborns of the former western parts of the city of Berlin was instituted in 1978 by determi nation of the TSH levels in dried filter paper blood spots of the 3rd to 5th day of life. Since 1991 the newborns of the former eastern part s have been also included in the same screening program. From 1978 to 1995 a total number of 104 newborns with permanent congenital hypothyr oidism have been detected resulting in a prevalence of congenital hypo thyroidism of 1:3800. The etiological diagnosis of hypothyroidism was made by imaging studies (ultrasonography or Tc-99m scintigraphy) and a ssessment of serum thyroglobulin and thyroid hormone levels. Using thi s approach in 37 children (30 female, 7 male) the diagnosis of athyros is, in 20 children (15 female, 5 male) the diagnosis of ectopy and in 21 children (18 female, 3 male) the diagnosis of thyroid hypoplasia wa s made. 16 children (8 female, 8 male) had a normally sized gland and 4 (1 female, 3 male) had congenital goiter. In 86% of all patients the age at onset of thyroxine (L-T4) replacement therapy was 8 or 9 days of life (3-42 days) and the median initial L-T4 dose was 14 mu g/kg/da y (10-16 mu g/kg/day). The intellectual outcome of 77 children (2-16 y ears) was studied and normal scores for the intelligence (IQ) and deve lopmental (DQ) quotients were found in 71 (92%). Outcome was not corre lated to the age at onset of treatment, the initial dose and the sever ity of hypothyroidism, but there was a positive correlation of the soc ioeconomic status of the family and the IQ of the patients. The result s of the screening program in Berlin document that an early and effici ent thyroxine replacement can normalize the intellectual outcome of pa tients with congenital hypothyroidism independent of the severity of t he disease as assessed by the residual thyroid function detectable at diagnosis.