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

• Autors principals: Ji-Hee Yoon (Autor), Soojin Hwang (Autor), Ja Hye Kim (Autor), Gu-Hwan Kim (Autor), Han-Wook Yoo (Autor), Jin-Ho Choi (Autor)
• Format: Llibre
• Publicat: Korean Society of Pediatric Endocrinology, 2024-02-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...