Genetic Conditions Predisposing to Ovarian Torsion
While the provided guidelines do not specifically address genetic predisposition to ovarian torsion, emerging case report evidence suggests hypermobile Ehlers-Danlos syndrome (hEDS) may predispose to recurrent adnexal torsion due to increased tissue elasticity and ligamentous laxity.
Evidence for Genetic Association
The strongest available evidence comes from a 2024 case report describing a 17-year-old with clinically diagnosed hEDS who experienced recurrent partial adnexal torsion 1. Whole-genome sequencing revealed a missense mutation (c.1691G > A, p.Arg564His) in the COL1A1 gene. This patient had two exploratory laparotomies at ages 8 and 10 for acute pain, ultimately requiring left adnexectomy and right detorsion. The recurrent torsion was attributed to hEDS-related tissue elasticity affecting the supporting ligaments 1.
Clinical Implications
In patients presenting with recurrent ovarian torsion, particularly in adolescents or young women, clinicians should assess for signs of connective tissue disorders, especially hEDS:
- Joint hypermobility (Beighton score assessment)
- Frequent joint dislocations
- Chronic pain syndromes
- Skin hyperextensibility
- Family history of connective tissue disorders
Management Considerations
For patients with confirmed or suspected hEDS and recurrent torsion, consider oophoropexy (surgical fixation by shortening the utero-ovarian ligament) rather than simple detorsion alone 1. The case report demonstrated successful prevention of recurrence at one-year follow-up after this intervention.
Important Caveats
- The evidence linking genetic conditions to ovarian torsion is limited to case reports, not large-scale studies
- Most ovarian torsion cases occur due to anatomical factors (enlarged ovaries, masses, elongated ligaments) rather than genetic predisposition
- In prepubertal girls with enlarged ovaries and torsion, systematic endocrinology referral is warranted to assess for hormonal anomalies, as only 30% are currently referred 2
- The recurrence rate after initial detorsion without oophoropexy is approximately 15% in prepubertal girls 2
The absence of guideline-level evidence means this association should be considered investigational, but clinicians should maintain heightened awareness in patients with connective tissue disorders presenting with recurrent abdominal pain.