Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

• DOI: 10.1590/0004-2730000003310
• Publication Date: 2014-10-29T18:29:08Z
• Authors: Marilza Leal Nasc...; Anísia Nhelety Ba...; Tatiane de Campos; Masanao Ohira; Edson Cechinel; Genoir Simoni; Juliana van de Sa...; Rose Marie Muller...; Paulo Cesar Alves...
• Keywords: Fludrocortisone

Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of Department Health State Santa Catarina (Secretaria de Estado da Saúde Catarina, SES/SC), and provide information to improve program.Descriptive, retrospective study 748,395 children screened between January 2001 December 2010. We analyzed coverage NSP-SES/SC prevalence CAH, child's age when first sample 17-hydroxyprogesterone (17OHP) measurement was collected, levels 17OHP, mean at treatment onset main clinical manifestations.The covered 89% live newborns in State. It diagnosed 50 cases yielding an incidence 1:14,967. Mean collection 7.3 days level 17OHP 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly genital hyperpigmentation. In three girls, genre established birth incorrect. salt-wasting form present 74% cases. There no occurrence shock or death. 17.4 compared 54.9 those without disease. All treated hydrocortisone, CAH also fludrocortisone.The 1 case 14,967 newborns. Collection occurred outside recommended time, resulting delays onset.