Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; E Ivison, Hannah; Hughes, Beverly; T. Rose, Ian; O’Neil, Donna; Vijzelaar, Raymon; J. Smith, Matthew; MacDonald, Fiona; Cole, Trevor; Adolphs, Nicolai; Barton, John; Blair, Edward; R. Braddock, Stephen; Collins, Felicity; Cragun, Deborah; Dattani, Mehul; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael; W. Gregory, John; Haim, Michaela; Harrison, Rachel; Haskins Olney, Ann; P. Hauffa, Berthold; C. Hindmarsh, Peter; J. Hopkin, Robert; Jira, Petr; Kempers, Marlies; N. Kerstens, Michiel; M. Khalifa, Mohamed; Köhler, Birgit; Maiter, Dominique; Nielsen, Shelly; O’Riordan, Stephen; Roth, Christian; Shane-Carson, Kate; Silink, Martin; Stikkelbroeck, Nike; Sweeney, Elizabeth; Szarras‐Czapnik, Maria; Waterson, John; Williamson, Lori; F. Hartmann, Michaela; Taylor, Norman; A. Wudy, Stefan; Małunowicz, E; Shackleton, Cedric; Arlt, Wiebke

doi:10.1210/jc.2011-0640

Public

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Published in The Journal of Clinical Endocrinology & Metabolism • Dec 8, 2011

Authors:

Nils Krone

Nicole Reisch

Jan Idkowiak

Abstract

CONTEXT: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available....

Subject

Missense mutation

Multiplex ligation-dependent probe amplification

Compound heterozygosity

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