Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at...

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Bibliographic Details
Main Authors: Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2024-02-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
21-hydroxylase deficiency
amniocentesis
chorionic villus sampling
cyp21a2
prenatal diagnosis
Online Access:http://e-apem.org/upload/pdf/apem-2346014-007.pdf

Internet

http://e-apem.org/upload/pdf/apem-2346014-007.pdf

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