Analysis of Phenotypes and Genotypes in 84 Patients with 21-Hydroxylase Deficiency in Southern China

ConclusionMicro-conversions were the most common types of CYP21A2 gene mutations in our study, and the frequency of the identified mutations was not significantly different compared with most other Chinese areas and different ethnic regions. However, fewer large gene conversions and deletions were found compared to studies in other ethnic populations. Genotype-phenotype correlation was found in patients with the SW and SV forms of 21-OHD. This study expanded the number of mutations affecting CYP21A2 gene in Chinese patients with 21-OHD, providing additional information for a precise clinical diagnosis and genetic counseling.
Source: Steroids - Category: Drugs & Pharmacology Source Type: research