[Screening for congenital adrenal hyperplasia in Hungary]

Abstract

Measurement of blood-spot 17-hydroxyprogesterone (17-OHP) concentration was used to identify cases of congenital adrenal hyperplasia (CAH) among patients with inappropriate virilization and/or salt wasting. Between 1978 to 1986 61 cases with 21-hydroxylase deficiency among 707 patients (278 newborns, 204 infants and 225 children) were identified. The incidence of classical CAH was calculated for a seven year prospective trial period using the blood-spot 17-OHP method in selective screening. There were 38 salt-losers and 14 simple virilizers in 968,303 live births giving an incidence of 1 in 18,000 for CAH in the Hungarian population. The use of a central laboratory facility to measure the blood-spot 17-OHP concentrations is proposed as a valuable initial method to investigate patients at risk for CAH in countries where blood steroid assays are not readily available in hospitals.