Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
J. pediatr. (Rio J.); 95 (3), 2019
Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disea...
17-alfa-Hidroxiprogesterona/sangre, Hiperplasia Suprarrenal Congénita/diagnóstico, Hiperplasia Suprarrenal Congénita/epidemiología, Hiperplasia Suprarrenal Congénita/genética, Biomarcadores/sangre, Brasil/epidemiología, Estudios Transversales, Genotipo, Incidencia, Mutación, Tamizaje Neonatal/métodos, Fenotipo, Esteroide 21-Hidroxilasa/sangre