title: Neonatal screening for congenital hypothyroidism in Estonia.
abstract: Screening for congenital hypothyroidism was carried out by measuring thyroid stimulating hormone (TSH) on dried blood spots (mean + 2SD cut off value 12 microU/ml) by fluoroimmunoassay using DELFIA kits. A total of 20,021 infants were screened, and seven cases with congenital hypothyroidism were detected, giving an incidence of congenital hypothyroidism of 1:2860 (female:male ratio 6:1). In four of seven infants with congenital hypothyroidism (57%) the mother also had thyroid disease, supporting the importance of genetic factors as a cause of congenital hypothyroidism. Transient hyperthyrotropinaemia occurred in 654 infants (recall rate 3.3%). There was a significant association of transient hyperthyrotropinaemia only with cardiac failure at birth or caesarean section (p < 0.01). Family studies showed no predisposition to thyroid diseases associated with a transient increase of TSH.
authors.affiliation: Department of Human Biology and Genetics, University of Tartu, Estonia.
authors.forename: R V
authors.initials: RV
authors.lastname: Mikelsaar
authors.forename: R
authors.initials: R
authors.lastname: Zordania
authors.forename: M
authors.initials: M
authors.lastname: Viikmaa
authors.forename: G
authors.initials: G
authors.lastname: Kudrjavtseva
mesh_terms: D003409:Congenital Hypothyroidism; D004957:Estonia / Q000453:epidemiology; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D013963:Thyroid Hormones / Q000032:analysis
chemical_list: D013963:Thyroid Hormones