Fig. 1
From: Human sex development: targeted technologies to improve diagnosis
a–c Overview of some of the single genes currently associated with disorders/differences of sex development (DSD). Targeted next-generation sequencing (NGS) panels can be valuable for the parallel analysis of many genes simultaneously, especially for forms of 46,XY DSD (b) where the diagnosis is unclear. A study by Eggers and colleagues [5] raises the possibility that variants in genes traditionally associated with central hypogonadism/Kallmann syndrome might also contribute to a 46,XY DSD phenotype