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Article

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

Jornal de pediatria - 1 Jan 2000

Kopacek Cristiane, Prado Mayara J, da Silva Claudia M D, de Castro Simone M, Beltrão Luciana A, Vargas Paula R, Grandi Tarciana, Rossetti Maria L R, Spritzer Poli Mara

Abstract excerpt

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 disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal...

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PMID: 29715434
DOI: 10.1016/j.jped.2018.03.003

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