GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly

• 来源期刊: 亚洲男性学杂志（英文版）
• 年，卷（期）: 2018,（6）
• 页码范围: 629-631
• 页数: 3页
• 语种: 英文

摘要

Dear Editor, Disorders of sex development (DSDs) are a group of conditions in which chromosomal,gonadal,or anatomical sex is atypical.1 DSD in genetic males (46,XY DSD) primarily results from impaired androgen production or action or perturbed genital morphogenesis.1 The current understanding of the genetic basis of46,XY DSD remains fragmentary.For example,although more than 15 genes have been implicated in the development ofnonsyndromic hypospadias,2 one of the most common forms of 46,XY DSD,1 mutations in these genes account for ＜20％ of the cases.3