CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.

中文翻译：

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2+0 CYP21A2 缺失携带者——基因检测和咨询的局限性：病例报告。

CYP21A2基因突变都可能导致 21-羟化酶活性降低或丧失，从而导致具有不同临床表型的先天性肾上腺增生症 (CAH) 的发展。对于有 CAH 孩子的家庭，建议对父母进行基因检测和遗传咨询，以评估复发风险。