XÁC ĐỊNH ĐỘT BIẾN GEN CYP21A2 TRÊN BỆNH NHÂN TĂNG SẢN THƯỢNG THẬN BẨM SINH THIẾU 21-HYDROXYLASE THỂ NAM HÓA ĐƠN THUẦN

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder commonly caused by CYP21A2 gene mutation. The disease is classified into three major clinical subtypes: salt wasting, simple virilizing and non-classical. Simple virilizing type (enzyme activity increased by 1 to 2% compared with Salt wasting type) with clinical manifestations including early onset puberty and increase height, bone age, with the most common clinical manifestations is gender ambiguity. Identification of mutations is important in diagnosis, especially in cases of atypical clinical presentation for accurate differentiation diagnosis. The study was conducted with the aim of identifying mutations in patients with simple virilizing congenital adrenal hyperplasia due to deficiency of 21-hydroxylase. METHODS: Twenty-one patients with 21-OH CAH recruited for CYP21A2 gene analysis to identify mutations. RESULTS: Mutations were detected in 100% of patients with simple virilizing CAH. Of which homozygous mutations accounted for 25%, heterozygosity accounted for 75%. The most common genotypes were Del / p.I172N (35%), second was p.I172N / p.I172N (25%), followed by genotypes I2g / p.I172N (20%), p. I172N / p.R356W (10%), p.I172N / p.Q318X and p.I172N / p.R426C (5%). Mutation allele with the highest incidence was p.I172N (60%), followed by Del (17%), p.R356W (10%), I2g 9%), p.Q318X (2%) and p.R426 (2%).