Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese

• Published in: The journal of clinical endocrinology and metabolism Vol. 85; no. 2; pp. 597 - 600
• Main Authors: LEE, H.-H, KUO, J.-M, CHAO, H.-T, LEE, Y.-J, CHANG, J.-G, TSAI, C.-H, CHUNG, B.-C
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Endocrine Society 01-02-2000
• Subjects: Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - ethnology; Adrenal Hyperplasia, Congenital - etiology; Adrenal Hyperplasia, Congenital - genetics; Asian Continental Ancestry Group - genetics; Biological and medical sciences; China; Female; Gene Frequency; Genetic Carrier Screening; Genetic Testing - methods; Gynecology. Andrology. Obstetrics; Humans; Male; Management. Prenatal diagnosis; Medical sciences; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; Steroid 21-Hydroxylase - genetics; Tropical medicine; Asia; Taiwan; Endocrinopathy; Human; Adrenal cortex diseases; Hyperadrenocorticism; Medical screening; Enzymopathy; Genetic determinism; Incidence; Congenital adrenal hyperplasia syndrome; Prenatal; Gene; Adrenal gland diseases; Diagnosis; Carrier
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/jc.85.2.597

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy people, using a previously developed differential PCR method combined with single-strand conformation polymorphism and amplification-created restriction site methods for the carrier detection of the CYP21 gene deficiency. Our results indicated that the rate of occurrence of the heterozygous CAH carrier was about 12 in 1,000, with a gene frequency of 0.0060 and an incidence frequency of 1 in 28,000 in the Chinese population. In addition, 9 cases of CAH families were performed with prenatal diagnosis. Among them, 3 cases were diagnosed as the severe form, 4 cases carried the heterozygous mutation, and 2 were normal. This is the first report of carrier frequency analysis and prenatal diagnosis of 21-hydroxylase deficiency in Chinese.