Article
[Novel compound heterozygous LoF mutations in SRD5A2 may result in disorders of sex development].
Zhonghua yi xue za zhi - 9 Jun 2020
Yao C C, Tian R H, Li P, Chen H X, Zhi E L, Huang Y H, Zhao L Y, Yang C, Zhang L, Li Y J, Li X, Li Z
Abstract excerpt
Objective: To investigate the novel genetic cause associated with hypospadias and the strategy for preventing offspring genetic defects in these patients. Methods: In March 2019, a patient with gonadal dysplasia (hypospadias associated with cryptorchidism) was referred to Shanghai General Hospital. His secondary sex characters, level of sex hormones and the development of male reproductive system was assessed...
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