Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women

Objective. To determine the genetic cause of 46,XY sex reversal in six Chinese women.Methods. G-banded karyotyping and mutation analysis of the SRY, NR5A1, and DHH genes using direct sequencing were performed in six Chinese women aged from 15- to 23-year old with poor sexual development and primary amenorrhea. Clinical, endocrinologic, and ultrasonographic evaluation was reported.Results. Three novel mutations, two heterozygous point mutations in SRY, and one heterozygous microdeletion in NR5A1 were found to be causative in three of the patients.Conclusion. This helps pathogenic study and provides new information for genetic counseling of 46,XY sex reversals.