Fig. 2

Genetic analysis of two siblings with 46,XY DSD. (A) Pedigree of the family. Squares indicate males, and circles indicate females. Dashed squares symbolize females or males affected with 46,XY DSD. The single line connects the two parents, who are not in a consanguineous marriage. The proband (II/1) was a 13-month-old male. His elder brother (II/2) is currently 16 years old but was 3 years old at the time of diagnosis. (B) Validation of the variants by Sanger sequencing of the parents and two patients