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Congenital Adrenal Hyperplasia

Studies from Schleswig-Holstein University, Department of Pediatrics further understanding of congenital adrenal hyperplasia

Published in Hospital Law Weekly, August 21st, 2008

A new study, 'Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction,' is now available. "Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene," scientists in Kiel, Germany report.

"Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A >C (K121Q) detected in a female patient with...

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