[Post-phlebitic leg ulcers and XYY karyotype: fibrinolysis and androgenic function tests. Apropos of 3 cases].
Three patients with karyotype XYY who had presented with deep vein thrombosis and leg ulcers (plus pulmonary embolism in two of them) were investigated for: (1) androgens (plasma testosterone measurement, testosterone oestradiol binding globulin (TeBG) assay, GnRH 50 micrograms test), and (2) haemostasis by fibrinolysis tests (euglobulin lysis time and area, antigenic plasminogen activator assay before and after 10 min venostasis). Full evaluation of haemostasis failed to demonstrate the presence of circulating anticoagulant or of antithrombin III, protein C and protein S deficiencies. One patient had neither hormonal nor fibrinolytic abnormality. The other two patients shared some clinical features with male hypogonadism (gynoid morphotype in both, hypotrophy of the testes in one, gynaecomastia in the other). They also had hormonal disorders ("over-response" to the GnRH test in one case, elevated TeGB in the other case) and abnormalities of fibrinolysis (poor response to venostasis, high baseline level of plasminogen activator). Response to venostasis became normal after 3 months of treatment with percutaneous dihydrosterone 125 mg per day in the two patients with initially poor response. The mechanism of venous pathology in XYY subjects is discussed. A genetic defect not involving the fibrinolysis system is possible since fibrinolysis was normal in one patient; however, abnormal fibrinolysis may have been responsible for the venous pathology in the other 2 patients. The role played by abnormalities of fibrinolysis in the pathogenesis of deep vein thrombosis and leg ulcers is recalled, and the possible implication of these abnormalities in patients with XYY karyotype is emphasized.(ABSTRACT TRUNCATED AT 250 WORDS)
Bennet
A
A
Service d'Endocrinologie, Hôpital Purpan, Toulouse.
Caron
P
P
Sie
P
P
Louvet
J P
JP
Bazex
J
J
D000328:Adult; D000728:Androgens / Q000097:blood; D013196:Dihydrotestosterone / Q000627:therapeutic use; D005342:Fibrinolysis; D006801:Humans; D007871:Leg Ulcer / Q000097:blood / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013924:Thrombophlebitis / Q000097:blood / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D014997:XYY Karyotype / Q000235:genetics* / Q000503:physiopathology
D000728:Androgens; D013196:Dihydrotestosterone
Ulcères de jambe post-phlébitiques et caryotype XYY: tests de fibrinolyse et fonction androgénique. A propos de 3 cas.