Imaging, endoscopy and diagnostic surgery.

Imaging of the inner genitalia and the gonads is part of the diagnostic work-up and is essential for an individualized approach to the disorder of sex development individual. Ultrasound is used as a first-line modality to detect the presence of a uterus and gonads. Magnetic resonance imaging can reveal the sex duct anatomy and details of prostate and pelvic muscle anatomy. Laparoscopy is an invasive surgical procedure that adds valuable information in gonadal dysgenesis and situations of diagnostic uncertainty.