Problems of neonatal screening on 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 کاملCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
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: Clinical endocrinology and endocrine surgery
سال: 2013
ISSN: 2519-2582,1818-1384
DOI: 10.24026/1818-1384.2(43).2013.77677