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[Leg ulcer and Klinefelter syndrome]
B Villemur1, H Truche, G Pernod
1Service de Chirurgie Vasculaire (Pr. Guidicelli), CHU, Grenoble.
Journal Des Maladies Vasculaires
|January 1, 1995
Summary
Klinefelter syndrome (XXY) is linked to leg ulcers, potentially due to hemostasis issues. Androgen therapy normalized elevated Plasminogen Activator Inhibitor (PAI-1) levels in one patient, suggesting a therapeutic link.
Area of Science:
- Endocrinology
- Genetics
- Vascular Medicine
Background:
- Klinefelter syndrome (KS), characterized by an XXY karyotype, is associated with a higher prevalence of leg ulcers (6-12%).
- Potential contributing factors include connective tissue abnormalities, venous insufficiency linked to morphology or androgen deficiency, and arterial dysplasia.
Observation:
- A 47-year-old male patient with a 6-year history of bilateral leg ulcers was diagnosed with Klinefelter syndrome (XXY).
- The patient presented with low testosterone levels and elevated Plasminogen Activator Inhibitor (PAI-1) activity.
Findings:
- Androgen therapy was administered to the patient.
- Following androgen therapy, the patient's elevated PAI-1 activity normalized, indicating a potential role for androgens in hemostasis regulation.
Implications:
- This case highlights the potential link between androgen deficiency in Klinefelter syndrome and hemostasis disorders contributing to leg ulcers.
- Normalization of PAI-1 activity with androgen therapy suggests a novel therapeutic approach for managing leg ulcers in KS patients.
- Further research is warranted to elucidate the precise physiopathologic mechanisms linking KS, hemostasis, and leg ulcer development.