Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole‐exome sequencing

Abstract

Abstract The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

Keywords

• 46, XY disorder of sexual development
• androgen insensitivity syndrome
• disease‐related variant
• whole‐exome sequencing