Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.
OBJECTIVE
Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.


METHODS
Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.


RESULTS
The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.


CONCLUSIONS
The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Marilza Leal
ML
Nascimento
Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil.
Anísia Nhelety Baptista
AN
Cristiano
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Tatiane de
Td
Campos
Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil.
Masanao
M
Ohira
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Edson
E
Cechinel
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Genoir
G
Simoni
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Juliana van de Sande
Jv
Lee
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Rose Marie Muller
RM
Linhares
Endocrine Pediatric Department, Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Paulo Cesar Alves da
PC
Silva
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D000818:Animals; D001724:Birth Weight / Q000502:physiology*; D001938:Brazil / Q000453:epidemiology; D005260:Female; D006365:Heel; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000706:statistics & numerical data*; D015397:Program Evaluation; D012189:Retrospective Studies
D019326:17-alpha-Hydroxyprogesterone