Prevalence of Adrenal 21-Hydroxylase Deficiency in Neonates Born in the West Midlands: a Retrospective Study

Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

“…In contrast to boys, most girls presented with genital virilisation and were detected within the first day of life. Although there were fewer boys diagnosed, we did not find a significant sex difference as observed in previous studies 9 23 24. However, our data are consistent with a West Midlands study25 which suggested that recognition of affected boys might be improving due to increased clinical awareness of CAH in recent years.…”

“…Estimates of birth prevalence from previous UK studies of clinically presenting CAH vary from 1 in 6200 to 1 in 25 000 9–12. However, these are based in particular regions, involve small sample sizes and use varying definitions of CAH.…”

Newborn screening for inborn errors of metabolism: a systematic review.

“…In the four retrospective UK case studies, the incidence of CAH is quoted at 1:12,000 77 on the basis of 26 identified cases in Wales over the 11 years from 1966 to 1977 (but with probable under-ascertainment of male cases), at 1:6200 over 1 year (four cases out of 24,750 births) in the West Midlands, 78 and at 1:21,000 on the basis of 15 diagnosed cases in Scotland 81,82 over the 10 years 1974-1984. In the prospective study in Scotland the incidence of CAH was 1:17,100 in 119,690 infants tested, compared with the retrospective incidence of 1:20,900 (95% confidence interval (CI), 1:12,700 to 1:32,600). 75,81,82…”

“…The retrospective analysis of 115 clinically diagnosed cases in the Birmingham (UK) area (1958-1985) 78,79 reported a male to female ratio approaching unity between 1970 and 1981, implying virtually complete clinical ascertainment. However, 66% of the total number of cases presented after 12 days of age by which time a neonatal screening result could be available to expedite and improve patient management.…”

“…We identified only four studies that provided data relevant to an assessment of neonatal screening for CAH in the UK. Three of the studies, by Murtaza and colleagues, 77 by Virdi and Green together with Rudd, 78,79 and by Donaldson and coworkers, 80 were purely retrospective case surveys. Donaldson and co-workers 80 were firmly of the belief that a prospective study was needed to evaluate neonatal screening for CAH, whereas Virdi and Green 78 thought such a study was unnecessary, and Murtaza and colleagues 79 drew equivocal conclusions from the results of their survey.…”