title: [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].
abstract: A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.
authors: Schlossklinik Abtsee, Fachklinik für Venenleiden, Laufen. rkasten@web.de
authors: Robert
authors: R
authors: Kasten
authors: Gudrun
authors: G
authors: Pfirrmann
authors: Volker
authors: V
authors: Voigtländer
mesh_terms: D000328:Adult; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D007871:Leg Ulcer / Q000150:complications / Q000209:etiology*; D008297:Male; D008947:Mixed Connective Tissue Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D010024:Osteoporosis / Q000150:complications / Q000188:drug therapy / Q000209:etiology; D013739:Testosterone / Q000627:therapeutic use; D019851:Thrombophilia / Q000150:complications* / Q000209:etiology; D013997:Time Factors; D020246:Venous Thrombosis / Q000175:diagnosis / Q000209:etiology*
chemical_list: D013739:Testosterone