Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome

Spier, Catherine M.

doi:10.1001/archderm.131.2.230

Cited by 10 publications

(11 citation statements)

References 5 publications

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“…Studies comparing KS patients with body mass index and age‐matched controls showed a significantly higher prevalence of diabetes and metabolic syndrome among KS patients (Radicioni et al ., ; Groth et al ., ). Interestingly, the increased prevalence of metabolic syndrome in KS was independent from the normal testosterone levels obtained during adequate replacement therapy, suggesting its independency by the hormonal milieu (Spier et al ., ). In this study only two KS subjects of 23 (8.7%) met the criteria for the diagnosis of metabolic syndrome.…”

Section: Discussionmentioning

confidence: 97%

“…Abnormalities in coagulation and fibrinolysis pathways, such as high levels of PAI‐1 activity and increased factor VIII coagulant activity may also be found in KS patients (Veraart et al ., ; Zollner et al ., ). Some recent data suggested that PAI‐1 was differentially expressed between KS patients and male controls (Zitzmann et al ., ) and that increased levels of PAI‐1 seems to be associated with low levels of testosterone and with the presence of leg ulceration in KS patients (Spier et al ., ; Zollner et al ., ; Igawa & Nishioka, ). However, a global assessment of the hemostatic balance is currently lacking in KS patients and a thromboelastometric evaluation could help address this issue.…”

Section: Discussionmentioning

confidence: 97%

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Increased platelet reactivity in Klinefelter men: something new to consider

et al. 2015

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SUMMARYPatients with Klinefelter syndrome (KS) exhibit an increased cardiovascular risk, but underlying mechanisms are largely unknown. The present cross-sectional study has been conducted to evaluate platelet reactivity and the expression of platelet activation markers (8-iso-prostaglandin F2a[8-iso-PGF2a] and 11-dehydro-thromboxane-B₂[11-dehydro-TXB2]) in KS patients and healthy controls. Twenty-three consecutive KS patients under testosterone replacement therapy have been included as case group and 46 agematched healthy males recruited among hospital staff served as controls. Light transmission aggregometry was performed in both cases and controls and maximal platelet aggregation (max-A%) was defined as maximal light transmittance reached within 5 min after the addition of 0.2 or 0.4 mM arachidonic acid (AA). A ≥ 50% irreversible light transmittance (LT-50%) following platelet stimulation defined an adequate platelet aggregation and AC-50% was defined as the minimal agonist concentration needed to achieve LT-50%. The AC-50% was 0.26 mM AA for KS and 0.36 mM for controls (p < 0.001). Whereas AA (0.2 mM) induced LT-50% in 69.6% of KS and in 15.2% of controls (p < 0.001), the stimulation with AA (0.4 mM) determined LT-50% in all cases and controls. However, max-A% was higher in KS than in controls both after AA (0.2 mM) (65.61% vs. 46.30%, p = 0.002,) and after AA (0.4 mM) (96.43% vs. 81.04%, p < 0.001). 8-iso-PGF2a and 11-dehydro-TXB2 were higher in KS than in controls (446.54 pg/mg creatinine vs. 230.00 pg/mg creatinine, p < 0.001 and 1278.36 pg/mg creatinine vs. 595.08 pg/mg creatinine, p = 0.001, respectively) and AC-50% inversely correlated with 8-iso-PGF2a (q = À0.548, p < 0.001) and with 11-dehydro-TXB2 (q = À0.523, p < 0.001). In a linear regression model, KS independently predicted a lower AC-50% (b = À0.597, p < 0.001) and higher levels of 8-iso-PGF2a (b = 0.709, p < 0.001) and 11-dehydro-TXB2 (b = 0.605, p < 0.001). In contrast, no correlation has been found between max-A%, testosterone and estradiol levels in KS. We observed increased platelet reactivity in KS. This might, at least in part, explain the increased thrombotic risk associated with this disease.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

Increased platelet reactivity in Klinefelter men: something new to consider

et al. 2015

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“…11 Supplemental androgen may even be a sufficient adjuvant therapy for the treatment of chronic wounds in patients with KS. 14,15 However, in male abusers of anabolic steroids, the net effect on the hemostatic system may paradoxically change from anti-to prothrombotic. It was suggested that an individual threshold dose, above which has thrombogenic effects on platelets and vasomotion, may overcome the profibrinolytic effects on PAI 1.…”

Section: Discussionmentioning

confidence: 99%

Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Özbek¹,

Öztürk

Üreten³

et al. 2008

Clin Appl Thromb Hemost

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Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states have been shown in KS patients complicated with venous thrombosis as isolated case reports. Arterial thrombotic events had not been previously reported in KS. In this study, a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy is presented. He was homozygous for the A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene.

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“…10 Therefore, the underlying problem of thromboembolism seems to be associated with the androgen deficiency, and supplemental androgen therapy may be a sufficient adjuvant strategy in the long term, even of chronic wounds in patients with Klinefelter's syndrome. [11][12][13] To the best of our knowledge, until now no investigations of the association of Klinefelter's syndrome and elevated factor VIII:C activity were reported. The gene encoding for factor VIII is located near the terminus of the long arm of the X chromosome.…”

Section: Discussionmentioning

confidence: 99%

Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome

Dissemond

Knab

Lehnen

et al. 2005

Acad Dermatol Venereol

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Klinefelter's syndrome is the most frequent major abnormality of sexual differentiation in men with two or more X chromosomes. Recurrent venous ulcers as a result of a post-thrombotic syndrome are a well known symptom in patients with Klinefelter's syndrome. Until now the underlying pathomechanisms are not completely understood. Platelet hyperaggregability, factor V Leiden mutation and abnormalities in fibrinolysis were implicated as possible contributing factors. Here we describe the detection of an increased activity of factor VIII coagulant (factor VIII:C). This is the first case report on increased factor VIII:C activity associated with venous ulcers in a patient with Klinefelter's syndrome. Elevated factor VIII plasma levels are gradually accepted to be associated with an increased risk for venous thromboembolism. Therefore, we discuss that the examination of factor VIII:C may help in clarifying individual thromboembolic risks, especially in patients with Klinefelter's syndrome.

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Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome

Cited by 10 publications

References 5 publications

Increased platelet reactivity in Klinefelter men: something new to consider

Increased platelet reactivity in Klinefelter men: something new to consider

Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome

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