Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

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.

Objective

The objective of the study was to establish genotype-phenotype correlations in a large PORD cohort.

Design

The design of the study was the clinical, biochemical, and genetic assessment including multiplex ligation-dependent probe amplification (MLPA) in 30 PORD patients from 11 countries.

Results

We identified 23 P450 oxidoreductase (POR) mutations (14 novel) including an exonic deletion and a partial duplication detected by MLPA. Only 22% of unrelated pati

SUBMITTER: Krone N 

PROVIDER: S-EPMC3380101 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature