Neonatal Screening for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia—The Role ofCYP21Analysis
نویسندگان
چکیده
منابع مشابه
Benefits 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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Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life w...
متن کاملNeonatal 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 کاملScreening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyz...
متن کاملAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.5.5781