No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.
Arch Dis Child
; 99(2): 158-64, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-24225272
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
/
Mutação Puntual
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Hiperplasia Suprarrenal Congênita
/
17-alfa-Hidroxiprogesterona
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
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Humans
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Infant
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Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article