Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
Indian Pediatr
;
2020 Jan; 57(1): 49-55
Artigo
| IMSEAR
| ID: sea-199519
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
/
Estudo de rastreamento
Revista:
Indian Pediatr
Ano de publicação:
2020
Tipo de documento:
Artigo
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