Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency

• Main Authors: Jayakrishna Tippabathani (Author), Venu Seenappa (Author), Alagupandian Murugan (Author), Nagaraja Mahishi Phani (Author), Mahesh H. Hampe (Author), Giridharan Appaswamy (Author), Prakash Sadashiv Gambhir (Author)
• Format: Book
• Published: MDPI AG, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital adrenal hyperplasia (CAH), screened for in neonates, is the second most common endocrinopathy after congenital hypothyroidism.Newborn screening for CAH due to CYP21A2 deficiency is performed by immunologic assay for 17-hydroxyprogesterone (17-OHP). The second-tier test for confirmation of...