Klinefelter syndrome

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
syndrome
gptkbp:affects males
gptkbp:causedBy extra X chromosome
gptkbp:chromosomePattern 47,XXY
gptkbp:complication gptkb:cancer
gptkb:bone
autoimmune disorders
gptkbp:diagnosedBy karyotype analysis
gptkbp:firstDescribed 1942
Harry Klinefelter
gptkbp:frequency common sex chromosome aneuploidy in males
https://www.w3.org/2000/01/rdf-schema#label Klinefelter syndrome
gptkbp:ICD-10_code gptkb:Q98
gptkbp:inheritance not inherited (usually random event)
gptkbp:MeSH_ID D007713
gptkbp:OMIM 400047
gptkbp:prevalence 1 in 500 to 1 in 1,000 male births
gptkbp:riskFactor advanced maternal age
gptkbp:symptom infertility
tall stature
gynecomastia
learning difficulties
small testes
reduced facial hair
gptkbp:synonym 47,XXY syndrome
XXY syndrome
gptkbp:treatment fertility treatment
testosterone replacement therapy
gptkbp:bfsParent gptkb:Meiosis
gptkbp:bfsLayer 6