Neonatal Screening for Congenital Adrenal Hyperplasia: experience and results in Argentina

GRUÑEIRO PAPENDIECK,; A.CHIESA,; V.MENDEZ,; L. PRIETO

JOURNAL OF PEDIATRIC ENDOCRINOLOGY

Año: 2008 vol. 21 p. 73 - 78

0334-018X

Objective To communicate the experience of CAH neonatal screening program performed in Buenos Aires, Argentina from 1997 to 2006. Population and method: 17OHP was measured with an immunofluorometric assay in filter paper blood samples collected at maternity discharge. Levels <40 nmol/l blood were considered normal.  With levels between 40-90 nmol/l a repeated specimen was requested and used to decide follow up. Confirmation in serum and clinical follow up was indicated  with  levels >90nmol/l .Percentiles according to gestational age and/or birth weight were applied for preterm babies (PT).   Results: From 80436 screened newborns (46.8%  girls), 8848 (11%) were PT.15T and 3PT were recalled (0.022%). 9 confirmed CAH (8T 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 prior the screening results .4 boys and 2 girls presented salt wasting  forms and severe crises were prevented. Conclusions: Our findings confirm the benefits of CAH neonatal screening in our country with  high incidence of the classical form. Established criteria of screening and follow up allowed us to detect unrecognized affected males and females and to accurate prevent salt wasting crises.