Imaging, endoscopy and diagnostic surgery.

Area of Science:

• Reproductive medicine
• Medical imaging
• Pediatric endocrinology

Background:

• Disorders of sex development (DSD) require precise diagnosis for appropriate management.
• Accurate assessment of internal genitalia and gonads is essential for an individualized treatment approach.

Purpose of the Study:

• To outline the role of various imaging modalities in the diagnostic work-up of individuals with disorders of sex development.
• To emphasize the importance of imaging in guiding individualized care for DSD patients.

Main Methods:

• Ultrasound: First-line imaging to detect uterus and gonads.
• Magnetic Resonance Imaging (MRI): Detailed visualization of sex duct anatomy, prostate, and pelvic muscles.
• Laparoscopy: Invasive procedure for gonadal dysgenesis and diagnostic uncertainty.

Main Results:

• Ultrasound effectively identifies key structures like the uterus and gonads.
• MRI provides comprehensive anatomical details of the pelvic region and sex ducts.
• Laparoscopy offers critical insights in complex cases, aiding definitive diagnosis.

Conclusions:

• Imaging plays a pivotal role in the comprehensive evaluation of DSD.
• A multimodal imaging approach, including ultrasound, MRI, and potentially laparoscopy, is vital for accurate diagnosis and management planning in DSD.
• Individualized patient care for DSD is significantly enhanced by detailed anatomical information obtained through imaging.