Should we screen for congenital adrenal hyperplasia? A review of 117 cases

A total of 117 patients with congenital adrenal hyperplasia who were under the care of paediatricians at Birmingham Children's Hospital between 1958 and 1985 were reviewed retrospectively. There were 47 boys (40%) and 70 girls (60%); 30 of the 47 boys (64%) and 38 of the girls (58% of the 66 whose salt state was known) were salt losers. In all salt losers the condition was diagnosed before the age of 6 months, 90% of the diagnoses being made during the first month. The ratio of boys to girls, the distributions of salt losers to non-salt losers, and the age at diagnosis were studied in relation to the year of birth. Early diagnosis was found to be more common in children born after 1970 due partly to the introduction of a method of assaying the concentration of 17 alpha-hydroxyprogesterone in serum, partly to an increase in the number of paediatricians in the West Midlands, and partly to the appointment of a paediatric endocrinologist. A neonatal screening programme does not seem to be necessary.