46 XX TESTICULAR DISORDER OF SEX DEVELOPMENT (46 XX MALE SYNDROME)

Abstract

The ambiguous genitalia present a great challenge to the medical profession. The birth of an infant with ambiguous genitalia is a psychosocial emergency for the family. Careful and complete evaluation by an experienced team of physicians capable of sophisticated psychosocial support is necessary before an appropriate therapeutic plan can be developed with the full, informed participation of the parents.
We present a case of 46 XX Testicular Disorder of Sex Development to emphasize the importance of systematic approach and multi-disciplinary involvement and management of the disorder of sex development.In 46 XX testicular disorder of sex development, male phenotype develops despite the presence of female karyotype1. In 90% of cases it is due to translocation of SRY gene either to X chromosome or some autosome; however in 10% cases it is SRY negative