Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina.
OBJECTIVE
To report the experience of the neonatal screening program for congenital adrenal hyperplasia (CAH) carried out in Buenos Aires, Argentina, from 1997 to 2006.


METHODS
17-Hydroxyprogesterone (17OHP) was measured with an immunofluorometric assay in filter paper blood samples collected at neonatal maternity discharge. Filter paper blood levels <40 nmol/l were considered normal. 17OHP levels from 40-90 nmol/l triggered a new assessment to decide on a course of action. Confirmation of CAH was made with levels >90 nmol/l. This led to clinical follow up. For preterm (PT) infants, data were adjusted according to percentiles for gestational age and/or birth weight.


RESULTS
From 80,436 screened newborns (46.8% girls), 8848 (11%) were PT. 15 term (T) and 3 PT infants were recalled (0.022%). Nine were confirmed as having CAH (8 T and 1 PT) (female/male: 0.8; incidence 1:8937). Mean ages of screening and treatment were 5.7 and 13 days. Only 33% of affected children were clinically suspected of having CAH prior to screening. Four boys and two girls presented salt-wasting forms and severe adrenal insufficiency crises were prevented as a result of the screening.


CONCLUSIONS
Our findings confirm the benefits of CAH neonatal screening in our country with a high incidence of the classical form. Established criteria of screening and follow up allowed us to detect unrecognized affected males and females and to successfully prevent salt-wasting crises.
Gruñieiro-Papendieck
Laura
L
Fundación de Endocrinología Infantil, División de Endocrinologia, Hospital de Niños R Gutiérrez, Buenos Aires, Argentina. lauragru@cedie.org.ar
Chiesa
Ana
A
Mendez
Virginia
V
Prieto
Laura
L
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D001118:Argentina; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies
D019326:17-alpha-Hydroxyprogesterone