先天性肾上腺皮质增生症的遗传学及基因型-表型相关性。
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
机构信息
Division of Adrenal Steroid Disorders, Icahn School of Medicine at Mount Sinai, New York, New York.
Division of Adrenal Steroid Disorders, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Pediatrics, Divison of Pediatric Endocrinology, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey.
出版信息
Fertil Steril. 2019 Jan;111(1):24-29. doi: 10.1016/j.fertnstert.2018.11.007.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, located on the short arm of chromosome 6. The two main underlying mechanisms of CYP21A2 defects are large gene deletion and conversion. Anticipation of the phenotypes associated with different combinations of CYP21A2 mutations remains the most important determinant in prenatal diagnosis and counseling of the expectant couple who are determined to be at risk for congenital adrenal hyperplasia.
先天性肾上腺皮质增生症（CAH）由于 21-羟化酶缺乏引起，是由于 CYP21A2 基因的突变导致的，该基因位于染色体 6 的短臂上。CYP21A2 缺陷的两个主要潜在机制是大片段基因缺失和转换。对于不同 CYP21A2 突变组合相关表型的预测仍然是产前诊断和咨询的最重要决定因素，这对于那些确定有先天性肾上腺皮质增生症风险的夫妇来说非常重要。
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