Results of the Screening program for congenital hypothyroidism in Berlin (1978–1995)

Abstract

Screening for congenital hypothyroidism for all newborns of the former western parts of the city of Berlin was instituted in 1978 by determination 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 parts have been also included in the same screening program. From 1978 to 1995 a total number of 104 newborns with permanent congenital hypothyroidism have been detected resulting in a prevalence of congenital hypothyroidism of 1:3800. The etiological diagnosis of hypothyroidism was made by imaging studies (ultrasonography or 99mTc scintigraphy) and assessment of serum thyroglobulin and thyroid hormone levels. Using this approach in 37 children (30 female, 7 male) the diagnosis of athyrosis, in 20 children (15 female, 5 male) the diagnosis of ectopy and in 21 children (18 female, 3 male) the diagnosis of thyroid hypoplasia was 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 micrograms/kg/day (10-16 micrograms/kg/day). The intellectual outcome of 77 children (2-16 years) was studied and normal scores for the intelligence (IQ) and developmental (DQ) quotients were found in 71 (92%). Outcome was not correlated to the age at onset of treatment, the initial dose and the severity of hypothyroidism, but there was a positive correlation of the socioeconomic status of the family and the IQ of the patients. The results of the screening program in Berlin document that an early and efficient thyroxine replacement can normalize the intellectual outcome of patients with congenital hypothyroidism independent of the severity of the disease as assessed by the residual thyroid function detectable at diagnosis.

Children With Congenital Hypothyroidism: Long-Term Intellectual Outcome After Early High-Dose Treatment

“…This is in accordance with the findings of other studies (22,28). This lack of association can be attributed to the early high-dose treatment regimen, which may eliminate the effects of initial dose or onset of treatment as reported by studies using either low dose (Ͻ10 g/kg/d) or late onset of treatment or both (11,29,30).…”

“…In our study, SES was an independent predictor of intellectual outcome. This finding is a wellknown phenomenon in normal and at-risk populations and has also been reported for children with CH (10,21,22). We found an interaction between group and intellectual performance for SES.…”

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

“…The early initiation of L-T 4 treatment, within the first 2 weeks of life, has been shown to be crucial for neurodevelopment and for the achievement of a normal intellectual outcome in affected children [78,79,80,81]. Disease severity, as judged by very low initial levels of thyroid hormones due to the absence or loss of function of the thyroid gland and by severely delayed bone age, has also been shown to be an important predictive factor for neurodevelopment [49,82,83,84,85,86,87].…”

Neugeborenenhypothyreosescreening in Deutschland. Retrospektive Analyse der Entwicklung von betroffenen Kindern am Beispiel des Bundeslandes Hessen

“…Damit stellt die Fr ü herkennung einer kongenitalen Hypothyreose beim Neugeborenen eine Voraussetzung dar, m ö glichst fr ü h und ohne Zeitverzug mit der Therapie zu beginnen. Durch eine fr ü hzeitig beginnende Therapie k ö nnen somit in den allermeisten F ä llen Folgesch ä den von den betroffenen Kindern fern gehalten werden [11,21] . Allerdings ist auch danach die Konstanz der lebenslangen Therapie eine weitere wichtige Voraussetzung f ü r eine optimale Entwicklung ( " long-term-outcome " ) dieser Kinder.…”