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Mirjana Kocova, Vesna Janevska and Violeta Anastasovska

. The usual age at diagnosis is 20–40 years with a variable prevalence reaching up to 94% ( 4 , 5 , 6 , 7 ). Some recent studies show that it can also affect younger boys ( 8 ). Severe CYP21A2 gene mutations, late diagnosis, non-compliance and

Open access

Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye

Introduction The CYP21A2 gene encodes the enzyme steroid 21-hydroxylase (21OH), which is essential for steroid synthesis in the adrenal cortex. Mutations in CYP21A2 are the main cause of the autosomal recessive disorder congenital adrenal

Open access

Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike and the AQUAPE CAH Study Group

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 test the predictive value of CAH phenotype assignment based on genotype classification in a large multicenter cohort. A retrospective evaluation of genetic data from 538 CAH patients (195 screened) collected from 28 tertiary centers as part of a German quality control program was performed. Genotypes were classified according to residual 21-hydroxylase activity (null, A, B, C) and assigned clinical phenotypes correlated with predicted phenotypes, including analysis of Prader stages. Ultimately, concordance of genotypes with clinical phenotypes was compared in patients diagnosed before or after the introduction of nationwide CAH-newborn screening. Severe genotypes (null and A) correlated well with the expected phenotype (SW in 97 and 91%, respectively), whereas less severe genotypes (B and C) correlated poorly (SV in 45% and NC in 57%, respectively). This was underlined by a high degree of virilization in girls with C genotypes (Prader stage >1 in 28%). SW was diagnosed in 90% of screening-positive babies with classical CAH compared with 74% of prescreening patients. In our CAH series, assigned phenotypes were more severe than expected in milder genotypes and in screened vs prescreening patients. Diagnostic discrimination between phenotypes based on genotypes may prove overcome due to the overlap in their clinical presentations.

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Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

) accounts for up to 95% of all CAH cases ( 4 ). The CYP21A2 gene is located on 6p21.3, approximately 30 kb from its pseudogene ( CYP21A1P ). CYP21A2 and CYP21A1P share approximately 98% homology in their exons and 96% homology in their introns

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

/conversions analysis Investigation for large deletions/conversions affecting the CYP21A2 gene was conduced as described by Lee et al . (10) . Multiplex ligation-dependent probe amplification (MLPA) analysis Screening for single and multi-exonic deletions

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Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås and Per M Thorsby

DNA was isolated from peripheral blood lymphocytes. Mutations in the CYP21A2 gene were identified by direct DNA sequencing and deletions were determined by real-time PCR ( 20 ). CYP21A 2 mutations were divided into four groups according to their

Open access

Lia Ferreira, João Silva, Susana Garrido, Carlos Bello, Diana Oliveira, Hélder Simões, Isabel Paiva, Joana Guimarães, Marta Ferreira, Teresa Pereira, Rita Bettencourt-Silva, Ana Filipa Martins, Tiago Silva, Vera Fernandes, Maria Lopes Pereira and Adrenal Tumors Study Group of the Portuguese Society of Endocrinology

.6% female), with a median age at onset of 3 (range, 0–30) years. The diagnosis of CAH was based on the molecular analysis of CYP21A2 gene. Five patients had X-linked adrenoleukodystrophy (ALD), with a median age at diagnosis of 25 (range, 11–28) years. Three

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

single panel pipeline covering both these groups of patients. The CYP21A2 gene associated with 95% of cases of congenital adrenal hyperplasia (CAH) is not included in this panel. This is because this patient group typically has a clinical diagnosis