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선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘

Other Titles
 A diagnostic algorithm after newborn screening for 21-hydroxylase deficiency 
 조성윤  ;  고정민  ;  이경아 
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.16(2) : 70-78, 2016 
Journal Title
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) 
Issue Date
Newborn screening ; Citrullinemia ; Citrin deficiency ; Argininosuccinic aciduria
21-hydroxylase deficiency (21-OHD), most common form of congenial adrenal hyperplasia, is categorized into classical forms, including the salt-wasting (SW) and the simple virilizing (SV) types, and nonclassical (NC) forms based on the severity of the disease. Newborn screening for 21-OHD has been performed in Korea since 2006. 17α-hydroxyprogesterone (17-OHP) is a marker for 21-OHD and is measured using a radioimmunoassay or a fluoroimmunoassay. Premature and low birth weight infants are likely to give false positive 17-OHP findings, therefore, cutoff values for these infants should be determined based on gestational weeks or birth weight. ACTH simulation test is helpful when the 17-OHP shows equivocal increase, and it is gold standard for diagnosis of NC type. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Molecular analysis of CYP21A2 is useful for confirming diagnosis of mild SV or NC type, predicting prognoses, and genetic counseling. In order to make newborn screening for 21-OHD more efficient, early detection of boy with SW type, early determination of girl with ambiguous genitalia, detection of NC type, and overcoming of false positive in premature and low birth weight infants should be considered. Above all, early treatment should be started when the patient is suspected as having 21- OHD clinically before confirming the diagnosis to prevent adrenal crisis. Here, author reviewed recent articles of guideline and proposed guideline for 21-OHD.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
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