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

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...

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Principais autores: Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy, Prakash Sadashiv Gambhir
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-02-01
Serier:International Journal of Neonatal Screening
Fag:
congenitaladrenal hyperplasia (CAH)
neonatal screening
<i>CYP21A2</i> reflex genetic testing
21-OH hydroxylase deficiency
Online adgang:https://www.mdpi.com/2409-515X/9/1/9
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