No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. Issue 2 (13th November 2013)

• Record Type: Journal Article
• Authors: Hird, Beverly E; Tetlow, Lesley; Tobi, Simon; Patel, Leena; Clayton, Peter E
• Is Part Of: Archives of disease in childhood. Volume 99:Issue 2(2014)
• Page Start: 158
• Page End: 164
• Publication Date: 2013-11-13
• Subjects: Congenital adrenal hyperplasia -- newborn screening -- neonatal screening -- 21-hydroxylase deficiency -- infant mortality; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2013-304473
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Objective: Congenital adrenal hyperplasia (CAH) is not currently included in the UK newborn screening programme. We investigated the hypothesis that, owing to non-specificity of symptoms, a proportion of males affected by salt-wasting (SW) CAH have died in infancy without being diagnosed. Design: Stored newborn screening blood spot samples were analysed for 17α-hydroxyprogesterone (17-OHP) in the following groups: Infants born in the North West of England, 1994 to 2006, who had died by 6 months age; (n=1198), a neonatal reference group (full-term n=100; preterm n=100) and a CAH positive control group. A newborn blood spot sample collected before diagnosis was available in 29/61 CAH patients recruited. SW CAH was present in 18/29 patients (16 males and 2 females). Samples from the deceased group with elevated 17-OHP were analysed for 8 common mutations in the 21-hydroxylase gene ( CYP21A2 ). Setting: North West of England. Results: Grouped by gestational age, mean (maximum) blood spot 17-OHP in nmol/L was as follows. Deceased full-term n=279, 6 (107); deceased premature n=365, 28 (251); deceased unknown gestational age n=553, 13 (>394). In the SW positive control group, the lowest level of 17-OHP was 179 nmol/L and 14 had levels greater than the highest standard (>268 to >420 nmol/L). All samples from the deceased group with 17-OHP results >179 nmol/L (n=6) and a further 13 samples underwent mutation analysis. No mutations were identified. Conclusions: Our findings do not support the hypothesis that, in our unscreened population, males affected by SW CAH are dying prior to diagnosis.