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Klinefelter syndrome

Disease ID:531
Name:Klinefelter syndrome
Associated with:1 target
Klinefelter's syndrome
Database Links
Disease Ontology: DOID:1921
Orphanet: ORPHA484


Androgen receptor
Comments:  Klinefelter syndrome (47, XXY - hypogonadism) is the most common chromosome aneuploidy in men and is usually characterized by underdeveloped testes and sterility. Skewed inactivation of the X-chromosome appears to contribute by reducing AR expression.
References:  1-2


No ligand related data available for Klinefelter syndrome


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1. Iitsuka Y, Bock A, Nguyen DD, Samango-Sprouse CA, Simpson JL, Bischoff FZ. (2001) Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet, 98 (1): 25-31. [PMID:11426451]

2. Kotula-Balak M, Bablok L, Fracki S, Jankowska A, Bilińska B. (2004) Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome. Folia Histochem Cytobiol, 42 (4): 215-20. [PMID:15704647]