Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population

The considerable variation in the reported incidence of congenital adrenal hyperplasia (CAH 1, McKusick 20191) (Childs et al 1956; Prader, 1958; Hubble, 1966; Rosenbloom and Smith, 1966; Hirschfield and Fleshman, 1969; Qazi and Thompson, 1972; Pang et al 1981) may be explained partially by the lack of a valid screening method. To evaluate the true prevalence of CAH, we examined all the newborns in the Emilia Romagna region of Italy during a period of approximately three years. Emilia Romagna is situated in northern Italy and our sample there was of a homogenous Caucasian population. For the screening programme we took advantage of the specimens collected on filter paper for neonatal screening of hypothyroidism and phenylketonuria. For the 17-OH-progesterone assay, the microfilter paper method modified from that of Pang and colleagues (Pang et al., 1977; Cacciari et al1982; Piazzi et al., 1981; Cacciari et al., 1983) was used.