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

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.