Purpose of review: To review the recent information regarding disorders of sex development (DSD) which contribute to, as well as highlight, the need for greater understanding of genetic mutations and the dire need for specific outcome information.
Recent findings: New information is primarily related to the identification of genetic mutations and other gene variations that impact reproductive system development. These new data add to the increasingly complex list of genes and the multigenetic effects involved in DSD. Several reviews outline the approach to diagnosis and management of the patient with DSD and the importance of a multidisciplinary team. These reviews continue to demonstrate the lack of specific guidelines for complex DSD patients for whom sex assignment is problematic.
Summary: Although genetic research continues to define new and multigenetic factors involved in the development of DSD, this review of the medical literature also underscores the fact that scientific understanding remains inadequate in many areas of DSD to provide solid guidelines for approaching the more controversial questions in the DSD patient. Accordingly, the need for larger, outcome studies using subjects with verified diagnoses are needed. Optimally, these studies would account for potentially confounding differences in genetic, social, and psychological factors to help answer the pressing question facing every clinician dealing with DSD patients - what is the relationship between medical decision-making (such as sex assignment and genital surgery) and future quality of life and adaptation.