|Title:||Neonatal Screening for Congenital Adrenal Hyperplasia in Taiwan: A Pilot Study||Authors:||CHU, SHAO-YIN
CHEN, LI- HSIN
|Keywords:||neonatal screening;congenital adrenal hyperplasia;Taiwan;HUMAN STEROID 21-HYDROXYLASE;17-HYDROXYPROGESTERONE LEVELS;PRETERM INFANTS||Issue Date:||2002||Journal Volume:||v.101||Journal Issue:||n.10||Start page/Pages:||691-694||Source:||JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION||Abstract:||
Background and Purpose: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with defects in steroidogenesis. Its wide and non-specific clinical spectrum poses problems for early diagnosis. Without a screening program, affected newborns may be missed, even though they have a life-threatening illness.. The purpose of this study was to survey the prevalence and phenotype of CAH in Taiwan by neonatal screening . Methods: From March 1, 2000, to August 31, 2001, 192,687 capillary blood spots were collected nationwide. Enzyme-linked immunosorbent assay ( ELISA) was used to quantitatively measure 17- hydroxyprogesterone (17-OHP) in all specimens. Results: Thirteen cases of CAH (7 female and 6 male) were detected, resulting in an estimated prevalence of 1:14,822. Nine patients (69%) had salt-wasting CAH and four (31%) had simple virilizing CAH. All cases were identified before clinical diagnosis, and also before the development of adrenal crisis. Conclusion: This study estimated that 20 babies with CAH are born each year in Taiwan. A nationwide neonatal screening program is the only way to provide early diagnosis and prompt treatment. This would save lives and enhance the health of affected infants.
|Appears in Collections:||醫學系|
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