Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

ABSTRACT:

Context

P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency.

Objective

The aim of the study was to describe the clinical and biochemical characteristics of ORD during puberty.

Design

Clinical, biochemical, and genetic assessment of seven ORD patients (five females, two males) presenting during puberty was conducted.

Results

Predominant findings in females were in

SUBMITTER: Idkowiak J 

PROVIDER: S-EPMC3124345 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature