title: Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.
abstract: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.
  
  
  
  We reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence.
  
  
  
  Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g.
  
  
  
  The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.
authors.affiliation: Neonatal Screening Labor, Neonatal Screening Unit, Hospital Materno Infantil Presidente Vargas, Porto Alegre, RS, Brazil.|Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Cristiane
authors.initials: C
authors.lastname: Kopacek
authors.affiliation: Neonatal Screening Labor, Neonatal Screening Unit, Hospital Materno Infantil Presidente Vargas, Porto Alegre, RS, Brazil. simonecastro13@gmail.com.|Departamento de Análises, School of Pharmacy, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. simonecastro13@gmail.com.|Faculdade de Farmácia-UFRGS, Av. Ipiranga, 2752, Porto Alegre, RS, 90610-000, Brazil. simonecastro13@gmail.com.
authors.forename: Simone Martins
authors.initials: SM
authors.lastname: de Castro
authors.affiliation: Departamento de Análises, School of Pharmacy, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.|Fundação Estadual de Projetos de Pesquisa em Saúde (FEPPS), Porto Alegre, RS, Brazil.
authors.forename: Mayara Jorgens
authors.initials: MJ
authors.lastname: Prado
authors.affiliation: Fundação Estadual de Projetos de Pesquisa em Saúde (FEPPS), Porto Alegre, RS, Brazil.
authors.forename: Claudia Maria Dornelles
authors.initials: CM
authors.lastname: da Silva
authors.affiliation: Neonatal Screening Labor, Neonatal Screening Unit, Hospital Materno Infantil Presidente Vargas, Porto Alegre, RS, Brazil.
authors.forename: Luciana Amorim
authors.initials: LA
authors.lastname: Beltrão
authors.affiliation: Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Poli Mara
authors.initials: PM
authors.lastname: Spritzer
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D015415:Biomarkers / Q000097:blood; D001938:Brazil / Q000453:epidemiology; D042241:Early Diagnosis; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D011237:Predictive Value of Tests; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; D019326:17-alpha-Hydroxyprogesterone
keywords: 21-amino-17-hydroxyprogesterone; Congenital adrenal hyperplasia; Incidence; Mass screening; Neonatal screening