SAT-098 The Impact of 17-OHP Cutoffs Determination in a Public Newborn Screening Program for Congenital Adrenal Hyperplasia in Southern Brazil: A Three Years’ Experience

Congenital adrenal hyperplasia (CAH), an autosomal recessive disease, is characterized by impairment of metabolic cortisol synthesis, with or without insufficient aldosterone production. It is caused by mutations in the CYP21A2 gene in approximately 90% of all cases, leading to 21-hydroxylase defici...

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Detalles Bibliográficos
Autores principales: Kopacek, Cristiane, Wiest, Paloma, de Castro, Simone Martins, Spritzer, Poli Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208353/
http://dx.doi.org/10.1210/jendso/bvaa046.1533

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