Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

ABSTRACT: PURPOSE:Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. METHODS:This study included four patients with POR deficiency confirmed by biochemical and molecular analysis of POR. Clinical and biochemical findings were reviewed retrospectively. Mutation analysis of POR was performed by Sanger sequencing after polymerase chain reaction amplification of all coding exons and the exon-intron boundaries. RESULTS:Al

SUBMITTER: Lee Y 

PROVIDER: S-EPMC7336261 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature