Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany.

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Main Authors: Dörr, Helmuth-Günther (Author) , Schulze, Nadja (Author) , Bettendorf, Markus (Author) , Binder, Gerhard (Author) , Bonfig, Walter (Author) , Denzer, Christian (Author) , Dunstheimer, Désirée Patricia Alexandra (Author) , Salzgeber, Kirsten (Author) , Schmidt, Heinrich (Author) , Schwab, Karl Otfried (Author) , Voss, Egbert (Author) , Wabitsch, Martin (Author) , Wölfle, Joachim (Author)
Format: Article (Journal)
Language:English
Published: 09 July 2020
In: Molecular and Cellular Pediatrics
Year: 2020, Volume: 7, Pages: 1-7
ISSN:2194-7791
DOI:10.1186/s40348-020-00100-w
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s40348-020-00100-w
Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1186/s40348-020-00100-w
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Author Notes:Helmuth-Günther Dörr, Nadja Schulze, Markus Bettendorf, Gerhard Binder, Walter Bonfig, Christian Denzer, Desiree Dunstheimer, Kirsten Salzgeber, Heinrich Schmidt, Karl Otfried Schwab, Egbert Voss, Martin Wabitsch and Joachim Wölfle
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Summary:Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany.
Item Description:Gesehen am 21.09.2026
Physical Description:Online Resource
ISSN:2194-7791
DOI:10.1186/s40348-020-00100-w