Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study
Journal
Journal of the Formosan Medical Association
Journal Volume
101
Journal Issue
10
Pages
691-694
Date Issued
2002
Author(s)
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.
SDGs
Other Subjects
hydroxyprogesterone; sodium chloride; adrenal cortex insufficiency; article; autosomal recessive disorder; blood analysis; capillary blood; child health care; childbirth; clinical feature; congenital adrenal hyperplasia; controlled study; early diagnosis; enzyme linked immunosorbent assay; female; health program; health survey; human; major clinical study; male; newborn; newborn screening; phenotype; pilot study; prevalence; quantitative analysis; salt losing nephritis; steroidogenesis; Taiwan; virilization; 17-alpha-Hydroxyprogesterone; Adrenal Hyperplasia, Congenital; Enzyme-Linked Immunosorbent Assay; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Pilot Projects
Type
journal article