The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience

The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience

Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced morta...

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Bibliographic Details
Main Authors: Simone Martins de Castro, Paloma Wiest, Poli Mara Spritzer, Cristiane Kopacek
Format: Article
Language:English
Published: Bioscientifica 2023-10-01
Series:Endocrine Connections
Subjects:
congenital adrenal hyperplasia
neonatal screening
reference values
17-ohp
birth weight
Online Access:https://ec.bioscientifica.com/view/journals/ec/aop/ec-23-0162/ec-23-0162.xml

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