Intersex genetic anomalies with malignant potential

Area of Science:

• Genetics
• Pediatric Endocrinology
• Oncology

Background:

• Mutations in sexual determination/differentiation genes can lead to intersex disorders and increase malignancy risk.
• Intersex conditions necessitate careful surveillance and management to prevent or treat associated cancers.

Purpose of the Study:

• To review intersex disorders associated with malignancy risk.
• To guide physicians in identifying and managing children vulnerable to gonadal or kidney cancers.

Main Methods:

• Classification of intersex disorders into risk groups.
• Review of current recommendations for gonadectomy and surveillance based on specific syndromes.
• Discussion of the evolution towards laparoscopic gonadectomy.

Main Results:

• Dysgenetic and intra-abdominal gonads are at highest risk for malignant degeneration, often requiring early gonadectomy.
• Syndromes like gonadal dysgenesis, Ullrich-Turner, Frasier, and Denys-Drash have specific malignancy risks.
• Management strategies vary, including observation for certain descended gonads or partial gonadectomy in true hermaphrodites.

Conclusions:

• Identifying risk factors such as dysgenetic gonads, Y chromosome presence with intra-abdominal gonads, and WT1 gene variants is key for malignancy prevention.
• Laparoscopic gonadectomy is an evolving approach for removing abnormal gonads in intersex patients.
• Proactive management based on risk stratification is essential for improving outcomes in intersex disorders.