Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

ABSTRACT:

Context

P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.

Objective

We describe four patients with POR deficiency and identify and characterize the activities of their mutations. A 46,XY male with micropenis and two 46,XX female infants with genital ambiguity presented with skeletal malformations, and a 46,XX adolescent presented with primary amenorrhea, elevated 17alpha-hydroxyprogesterone, and low sex steroids.

Methods

The coding regions of the POR gene were sequenced, and the identified mutations were recreated in human POR cDNA expression vectors lacking 27 N-terminal residues. POR a

SUBMITTER: Sahakitrungruang T 

PROVIDER: S-EPMC2795645 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature