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Condition

Klinefelter Syndrome

Congenital Malformations and Chromosomal Abnormalities

Klinefelter syndrome is a genetic condition in which a male is born with an extra copy of the X chromosome. It can affect physical development, fertility, and hormone levels, though its signs vary widely and many affected individuals are never diagnosed. Common features can include reduced testosterone production, taller than average stature, and reduced fertility.

Facts
Classification
Body System
Nervous System 1
Body System
Reproductive System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 4
First Described
1942 4
Connections

Associated With

Genetics, Medical Specialties

Chromosomal condition (extra X chromosome in males); genetics specialty.

Sources
1. Wikidata: Klinefelter Syndrome
Wikidata
  • Wikidata P279 (body-system: reproductive)
    Subclass of: male infertility due to gonadal dysgenesis
  • Wikidata P279 (body-system: nervous)
    Subclass of: chromosomal anomaly with epilepsy as a major feature
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2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
Wikipedia
  • Lead section, transmission-route statement (inferred from disease-category)
    Down syndrome and Cystic fibrosis.
  • Inherited/genetic diseases section
    Down syndrome and Cystic fibrosis.
View the Source
4. Klinefelter syndrome (Wikipedia)
  • Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly.
  • Wikipedia: Klinefelter syndrome, History section
    The syndrome was named after American endocrinologist Harry Klinefelter, who in 1942 worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston, Massachusetts, and first described it in the same year.
View the Source
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