Article
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
Journal of endocrinological investigation - 1 May 2012
Jiang L, Song L L, Wang H, Wang J L, Wang P P, Zhou H B, Zhang X L
Abstract excerpt
BACKGROUND: Steroid 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH). Clinically, 21-OHD is categorized into saltwasting, simple-virilizing (SV), and non-classical (NC) forms. It is well recognized that a good correlation exists between genotype and clinical phenotype of CAH. AIM: The aim of this study was to identify CYP21A2 gene mutations in 2 Chinese patients...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Animals
- Asian People
- COS Cells
- Child
- Chlorocebus aethiops
- Female
- Genotype
- Humans
- Male