Chu S.-Y.WEN-YU TSAIChen L.-H.Wei M.-L.YIN-HSIU CHIENWUH-LIANG HWU2020-12-162020-12-1620020929-6646https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036819011&partnerID=40&md5=a53ffb8a20031c37f3cee16328800f25https://scholars.lib.ntu.edu.tw/handle/123456789/526059Background 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]SDG3hydroxyprogesterone; 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 Projectsjournal article125170422-s2.0-0036819011