Testosterone Replacement Therapy in Klinefelter Syndrome—Follow-up Study Associating Hemostasis and RNA Expression
Authors' conclusion
KS is associated with a specific expression profile contributing to fibrinolytic impairment and increased thrombotic risk in the patients. TRT in patients with KS has the potential for alleviating the prothrombotic phenotype, in particular by reducing body fat and fibrinogen.
Study context
- Population
- Men with Klinefelter syndrome (KS) with hypergonadotropic hypogonadism
- Exposure
- KS vs healthy controls; Testosterone replacement therapy (TRT) initiated in untreated KS
- Outcome
- Hemostasis: thrombin generation with or without thrombomodulin and fibrin clot lysis (turbidity)
- Follow-up
- 18 months
Methodological detailsmatched healthy controls, 18-month follow-up
- Matched healthy controls
- 18-month follow-up
Main finding
As reported in the abstract
Hemostasis
- Thrombin generation with thrombomodulin slightly increased in untreated KS; overall KS not associated with a hypercoagulable state
- KS presented with fibrinolytic impairment associated with higher body fat and higher fibrinogen
- 18 months of TRT in KS associated with reduced body fat and fibrinogen, attenuating the prothrombotic profile
Observational data: associations, not effects.
Further findings
RNA expression (blood, fat, muscle)
- ENPP4 expression higher in KS; key player among genes associated with impaired fibrinolysis
Original publication
Testosterone Replacement Therapy in Klinefelter Syndrome—Follow-up Study Associating Hemostasis and RNA Expression. J Clin Endocrinol Metab. Published 14 November 2023. doi:10.
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