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

• Main Authors: Ji-Hee Yoon (Author), Soojin Hwang (Author), Ja Hye Kim (Author), Gu-Hwan Kim (Author), Han-Wook Yoo (Author), Jin-Ho Choi (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...