Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency | Zendy

Siegfried Kösel | Zendy; Siegfried Burggraf | Zendy; Ralph Fingerhut | Zendy; H. G. Dörr | Zendy; Adelbert A. Roscher | Zendy; Bernhard Olgemöller | Zendy

Open Access

Rapid Second-Tier Molecular Genetic Analysis for Congenital Adrenal Hyperplasia Attributable to Steroid 21-Hydroxylase Deficiency

Author(s) -

Siegfried Kösel,

Siegfried Burggraf,

Ralph Fingerhut,

H. G. Dörr,

Adelbert A. Roscher,

Bernhard Olgemöller

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2004.042416

Subject(s) - congenital adrenal hyperplasia , 21 hydroxylase , false positive paradox , medicine , endocrinology , physiology , machine learning , computer science

Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17alpha-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research