Malignancy in disorders of sex development

Area of Science:

• Reproductive Endocrinology and Genetics
• Oncology
• Pediatric Urology

Background:

• Disorders of Sex Development (DSD) affect 1 in 4,500-5,000 live births, presenting complex challenges in diagnosis, tumor risk assessment, and fertility preservation.
• Understanding the specific gonadal tumor risks associated with various DSD subtypes is critical for timely and effective management.

Approach:

• A comprehensive literature review was conducted using PubMed and Google Scholar to synthesize current knowledge on gonadal tumors in DSD patients.
• Data from peer-reviewed articles on DSD, gonadal development, and tumor formation/treatment were analyzed to generate a synopsis of findings.

Key Points:

• DSD patients are at higher risk for testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), influenced by Y-chromosomal material and gonadal position.
• Specific DSD conditions like complete and partial Androgen Insensitivity Syndrome (AIS) and Persistent Mullerian Duct Syndrome (PMDS) carry distinct tumor risks.
• Newer tumor markers (Oct3/4, TSPY, WT-1) and advanced genotyping are improving malignancy evaluation in DSD.

Conclusions:

• Enhanced genetic screening for Y-chromosomal material is recommended as standard care for DSD patients to better assess cancer risk.
• Advances in pathological diagnosis and histological examination of gonads are essential for refining oncologic management and surveillance strategies in this diverse population.