Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
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Date
2020-01
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguousgenitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to amissed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening forCAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestationalage is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassayfollowed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routinemolecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility inprenatal diagnosis and genetic counseling for future pregnancy.
Description
Keywords
17OHP, Cortisol, Fluoroimmunoassay, Tandem mass spectrometry
Citation
Vats Pallavi, Dabas Aashima, Jain Vandana, Seth Anju, Yadav Sangeeta, Kabra Madhulika, Gupta Neerja, Singh Preeti, Sharma Rajni, Kumar Ravindra, Polipalli Sunil K, Batra Prerna, Thelma BK, Kapoor Seema. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. Indian Pediatrics. 2020 Jan; 57(1): 49-55