title: Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina.
abstract: 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.
authors.affiliation: Fundación de Endocrinología Infantil, División de Endocrinologia, Hospital de Niños R Gutiérrez, Buenos Aires, Argentina. lauragru@cedie.org.ar
authors.forename: Laura
authors.initials: L
authors.lastname: Gruñieiro-Papendieck
authors.forename: Ana
authors.initials: A
authors.lastname: Chiesa
authors.forename: Virginia
authors.initials: V
authors.lastname: Mendez
authors.forename: Laura
authors.initials: L
authors.lastname: Prieto
mesh_terms: 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
chemical_list: D019326:17-alpha-Hydroxyprogesterone