Neonatal screening for congenital adrenal hyperplasia
نویسندگان
چکیده
منابع مشابه
Neonatal screening for congenital adrenal hyperplasia
459 Summary Objective: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal hyperplasia (CAH) is the main justification for its implementation. One of the challenges for its implementation is to determine the cutoff value for laboratory measurement of 17-hydroxyprogesterone (17OHP) with appropriate cost-effectiveness. This study identified fact...
متن کاملInfluence of spironolactone on neonatal screening for congenital adrenal hyperplasia.
AIM To determine if the diuretic spironolactone cross reacts with 17alpha-hydroxyprogesterone (17OHP) in an enzyme linked immunosorbent assay (ELISA) kit used for the mass screening of congenital adrenal hyperplasia. METHODS Concentrations of 17OHP on a blood filter paper disc were measured using an ELISA kit (kit C-7: ENZAPLATE N-17alpha -OHP-7; Chiron, Tokyo, Japan). The cross reactivity of...
متن کاملNeonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.
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 i...
متن کاملTen-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.
OBJECTIVE Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. SUBJECTS AND METHODS Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyz...
متن کاملBenefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.
OBJECTIVES The aim of this study was to evaluate the benefits of neonatal screening for congenital adrenal hyperplasia (CAH). METHODS All children with CAH born in Sweden from January 1989 to December 1994 were subjected to a systematic follow-up. Clinical symptoms were recorded and laboratory data collected. The clinical diagnosis versus diagnosis by screening was investigated. The results w...
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ژورنال
عنوان ژورنال: Revista da Associação Médica Brasileira (English Edition)
سال: 2012
ISSN: 2255-4823
DOI: 10.1016/s2255-4823(12)70229-1