Chẩn đoán trước sinh bệnh tăn sản thượng thận bẩm sinh thể thiếu 21-hydroxylase

• Tác giả: Thị Thu Hương Ngô, Phú Đạt Nguyễn, Viết Tiến Nguyễn, Thành Văn Tạ, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 612.45 Adrenal glands
• Thông tin xuất bản: Nghiên cứu Y học, 2013
• Mô tả vật lý: 194-200
• Bộ sưu tập: Metadata
• ID: 556738

Tóm tắt

Congenital adrenal hyperplasia is an autosomal recessive disorder in more than 90 percent of cases caused by genetic aberrations of the steroid 21-hydroxylase gene (CYP21A2). Appropriate prenatal treatment to the at-risk pregnant mother is effective in reducing genital virilization in the fetus, thus avoiding unnecessary genitoplasty in affected females. This study was earried out with the purpose of prenatal diagnosis for mothers carrying heterozygous mutation in CYP21A2 gene. Sequencing and MLPA methods were used to identify mutation in CYP21A2 gene for fetus at 16th week of the gestation. The results showed that 2 out of 4 fetuses have mutation in CYP21A2 gene including 1 fetus with heterozygous mutation of 656A1C G/1763insT, 1 fetus. with homozygous mutation of 2110C T (R356W) and 2 fetus are normal.