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Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study
Shao-Yin Chu1, Wen-Yu Tsai, Li-Hsin Chen
1Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien.
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.