BIOMAT Database Logo BIOMAT Database Logo

[Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome]. 2005

Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
Schlossklinik Abtsee, Fachklinik für Venenleiden, Laufen. rkasten@web.de

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.

UI MeSH Term Description Entries
D007713 Klinefelter Syndrome A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). 48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes
D007871 Leg Ulcer Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes. Leg Ulcers,Ulcer, Leg,Ulcers, Leg
D008297 Male Males
D008947 Mixed Connective Tissue Disease A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence. Connective Tissue Disease, Mixed,Sharp Syndrome,MCTD,Syndrome, Sharp
D010024 Osteoporosis Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Age-Related Osteoporosis,Bone Loss, Age-Related,Osteoporosis, Age-Related,Osteoporosis, Post-Traumatic,Osteoporosis, Senile,Senile Osteoporosis,Osteoporosis, Involutional,Age Related Osteoporosis,Age-Related Bone Loss,Age-Related Bone Losses,Age-Related Osteoporoses,Bone Loss, Age Related,Bone Losses, Age-Related,Osteoporoses,Osteoporoses, Age-Related,Osteoporoses, Senile,Osteoporosis, Age Related,Osteoporosis, Post Traumatic,Post-Traumatic Osteoporoses,Post-Traumatic Osteoporosis,Senile Osteoporoses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013739 Testosterone A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL. 17-beta-Hydroxy-4-Androsten-3-one,17-beta-Hydroxy-8 alpha-4-Androsten-3-one,8-Isotestosterone,AndroGel,Androderm,Andropatch,Androtop,Histerone,Sterotate,Sustanon,Testim,Testoderm,Testolin,Testopel,Testosterone Sulfate,17 beta Hydroxy 4 Androsten 3 one,17 beta Hydroxy 8 alpha 4 Androsten 3 one,8 Isotestosterone
D013997 Time Factors Elements of limited time intervals, contributing to particular results or situations. Time Series,Factor, Time,Time Factor
D019851 Thrombophilia A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS. Hypercoagulability,Hypercoagulabilities,Thrombophilias

Related Publications

Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Mixed connective tissue disease (Sharp's syndrome)].
January 1977, Verhandlungen der Deutschen Gesellschaft fur Innere Medizin,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Mixed connective tissue disease (Sharp's syndrome)].
January 1978, Revista de medicina interna, neurologe, psihiatrie, neurochirurgie, dermato-venerologie. Medicina interna,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Systemic mixed connective tissue disease--Sharp's syndrome].
January 2001, Srpski arhiv za celokupno lekarstvo,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Mixed connective tissue disease or Sharp's syndrome. Current concepts].
December 1983, Presse medicale (Paris, France : 1983),
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Mixed connective tissue disease (Sharp's syndrome)--a case report].
January 1988, Vutreshni bolesti,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Sharp's syndrome (mixed connective tissue disease). Clinical aspects diagnosis and prognosis].
August 1977, Schweizerische medizinische Wochenschrift,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Severe corticoid-refractory autoimmune thrombocytopenia associated with mixed connective tissue disease (Sharp's syndrome). Treatment with rituximab].
September 2009, Deutsche medizinische Wochenschrift (1946),
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Basedow's disease associated with Sharp's syndrome. Clinical and biological improvement of mixed connective tissue disease after total thyroidectomy].
January 1991, Annales de medecine interne,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
[Should Sharp's syndrome (mixed connective tissue disease) be differentiated from systemic lupus erythematosus?].
January 1980, La Revue de medecine interne,
Robert Kasten, and Gudrun Pfirrmann, and Volker Voigtländer
Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus.
November 1999, Internal medicine (Tokyo, Japan),
Copied contents to your clipboard!