21羟化酶缺乏为最常见的先天性肾上腺皮质增生症的一种类型。临床症状以性发育异常伴或不伴有水盐代谢失调为主。女性表现为男性化假两性畸形。本文通过PCR方法对女性假两性畸形的SRY基因扩增的研究,来鉴别诊断有无SRY基因移位的真假两性畸形,弥补了以往激素水平测定和细胞水平染色体检查的不足。其方法快速、灵敏、简便。易于推广,对该病的及时诊断,早期针对性治疗很有意义。 21 hydroxylase deficiency is the most common type of congenital adrenal hyperplasia. Clinical symptoms of sexual dysplasia with or without water and salt metabolism disorders based. Women showed masculine pseudohermaphroditism. In this paper, the PCR method of female bisexual deformity SRY gene amplification study to identify the presence or absence of SRY gene translocation of the true and false anomalies, make up for the previous determination of hormone levels and cell-level chromosomal deficiencies. The method is fast, sensitive and easy. Easy to promote, the timely diagnosis of the disease, early targeted treatment is meaningful.