SUN-172 A False Positive Result in Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in a Girl with Beckwith Wiedemann Syndrome

Background: Congenital Adrenal Hyperplasia (CAH) comprises a spectrum of autosomal recessive diseases, resulting in enzymatic defects in the cortisol secretion. CAH newborn screening can avoid neonatal mortality in children with the salt-wasting form and prevent incorrect gender assignments in femal...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Braga, Barbara Leitao, Feitosa, Klevia N, Maia, Thamiris Freitas, Madureira, Guiomar, Nishi, Mirian Yumie, Bachega, Tania A, Villares Fragoso, Maria Candida Barisson, Mendonca, Berenice Bilharinho
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
Subjects:
Adrenal
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207444/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1371
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