Tuberous sclerosis complex and gynaecological complications: navigating diagnostic and surgical challenges

Area of Science:

• Gynecology
• Genetics
• Oncology

Background:

• Tuberous sclerosis complex (TSC) is a rare genetic disorder.
• TSC is characterized by benign tumors in multiple organs, including potential reproductive system complications.
• Gynecological issues in TSC patients can be complex and require specialized management.

Purpose of the Study:

• To report a case of a nulliparous woman with TSC presenting with a gynecological emergency.
• To highlight the diagnostic and management challenges in TSC patients with reproductive system pathology.
• To emphasize the importance of a multidisciplinary approach in managing such cases.

Main Methods:

• Case report of a nulliparous woman in her mid-30s with a history of TSC.
• Diagnostic workup included imaging studies suggestive of a large ruptured hemorrhagic ovarian cyst.
• Laparoscopy-guided biopsy was performed due to extensive adhesions.

Main Results:

• The patient presented with heavy menstrual bleeding, dysmenorrhea, and lower abdominal pain.
• Intraoperative findings revealed a friable mass adherent to the pouch of Douglas and dense ovarian adhesions.
• Postoperative recovery was uneventful, and the patient was initiated on hormonal therapy.

Conclusions:

• This case illustrates the complex interaction between TSC-related pathology and gynecological emergencies.
• Multidisciplinary management involving gynecologists, surgeons, and geneticists is crucial for optimal patient outcomes.
• Early recognition and intervention are vital for managing reproductive system complications in TSC.