Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

• Published in: Endocrine Connections Vol. 8; no. 2; pp. 86 - 94
• Main Authors: Riedl, Stefan, Röhl, Friedrich-Wilhelm, Bonfig, Walter, Brämswig, Jürgen, Richter-Unruh, Annette, Fricke-Otto, Susanne, Bettendorf, Markus, Riepe, Felix, Kriegshäuser, Gernot, Schönau, Eckhard, Even, Gertrud, Hauffa, Berthold, Dörr, Helmuth-Günther, Holl, Reinhard W, Mohnike, Klaus
• Format: Journal Article
• Language: English
• Published: England Bioscientifica Ltd 01.02.2019; Bioscientifica
• Subjects: 21-hydroxylase; CAH; CYP21A2; genotype-phenotype; CAH; genotype-phenotype; CYP21A2; congenital adrenal hyperplasia; 21-hydroxylase

Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity. Phenotypes and genotypes correlate well in 80–90% of cases. We set out to...