| Author/Editor | Kržišnik, C; Battelino, T; Bratanič, N; Hojker, S; Pavlin, K; Žerjav-Tanšek, M; Bratina-Uršič, N; Frelih, J; Žemva, B; Bratanič, B; Vatovec, J; Kolar, G | |
| Title | Results of screening for congenital hypothyroidism during the ten-year period (1981-1991) in Slovenia | |
| Type | članek | |
| Source | Zdrav Vestn | |
| Vol. and No. | Letnik 63, št. Suppl 1 | |
| Publication year | 1994 | |
| Volume | str. I-29-I-31 | |
| Language | eng | |
| Abstract | Congenital hypothyroidism (CH) is probably the most common preventable cause of mental retardation. The early diagnosis and treatment are crucial to the prevention of severe intellectual deficit. Due to the facts that clinical signs and symptoms of the disease usually become evident after few months when irreversible neurological sequellae occur and that the incidence of CH is relatively high, and the treatment cheap and effective, it is worth while to perform the screening for the disease in all newborns. Materials and methods. Screening for CH was started in Slovenia in 1981 by measurement of TSH in filter-paper blood spots by hellprick between the third and fifth day. TSH cut off value has been 20 mU/L for RIA method and 15 mU/L for Delphia method. Patients with elevated TSH leveIs were placed on thyroxin therapy 100 mcg/ m2 while the evaluation of the thyroid function was performed at the age of one year after brief interruption of therapy. Patients were examined every 3 to 4 months, while once a year detailed clinical, neurological and psychological exams were done. Since the age of 3 years ophthalmological and audiometric exams were performed as well. Results. Between August 1, 1981 and August 1, 1991, screening for CH was performed in 211,287 newborns. Recall rate was 0.05 per cent. CH with TSH exceeding 20 m U/L until 1989 and 15 m U/L later on was stated in 63 children. The incidence was 1:3,554. In the same period the incidence of transient hypothyroidism was 1:23,476 and that of permanent CH evaluated at the age of one year 1:4,143. The average age in which the therapy was started was 12.3 +- 4.9 days. Two patients were missed during the first two years of screening due to human error. In all children in whom screening was performed properlly, except one case of Mb Down, one of cerebral gigantism and two of cerebral palsy due to perinatal anoxia, the psychomotor development was in normal range. | |
| Descriptors | HYPOTHYROIDISM MASS SCREENING INFANT, NEWBORN SLOVENIA THYROID HORMONES THYROID FUNCTION TESTS |