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Congenital adrenal hyperplasia: diagnostic advances


Torresani, T; Biason-Lauber, Anna (2007). Congenital adrenal hyperplasia: diagnostic advances. Journal of Inherited Metabolic Disease, 30(4):563-575.

Abstract

Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. Much has been learned about the genetics of the various clinical forms of 21-hydroxylase deficiency, and correlations between the genotype and the phenotype have been studied extensively. Gene-specific diagnosis is now feasible and neonatal screening and prenatal treatment have been widely implemented. This discussion will be limited to the most common form of congenital adrenal hyperplasia, with focus on the diagnostic advances in this disease

Abstract

Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. Much has been learned about the genetics of the various clinical forms of 21-hydroxylase deficiency, and correlations between the genotype and the phenotype have been studied extensively. Gene-specific diagnosis is now feasible and neonatal screening and prenatal treatment have been widely implemented. This discussion will be limited to the most common form of congenital adrenal hyperplasia, with focus on the diagnostic advances in this disease

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:National licences > 142-005
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:1 August 2007
Deposited On:06 Dec 2018 16:20
Last Modified:31 Jul 2020 02:39
Publisher:Springer
ISSN:0141-8955
OA Status:Green
Publisher DOI:https://doi.org/10.1007/s10545-007-0696-6
Related URLs:https://www.swissbib.ch/Search/Results?lookfor=nationallicencespringer101007s1054500706966 (Library Catalogue)
PubMed ID:17694353

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