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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Huvudupphov:	Jayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, Nagaraja Mahishi Phani, Mahesh H. Hampe, Giridharan Appaswamy, Prakash Sadashiv Gambhir
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	MDPI AG 2023-02-01
Serie:	International Journal of Neonatal Screening
Ämnen:	congenitaladrenal hyperplasia (CAH) neonatal screening <i>CYP21A2</i> reflex genetic testing 21-OH hydroxylase deficiency
Länkar:	https://www.mdpi.com/2409-515X/9/1/9
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