klinefelter's syndrome

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Definition

Noun: A genetic condition affecting males, characterized by the presence of an extra X chromosome (resulting in an XXY karyotype). This leads to a spectrum of physical and developmental features, which may include reduced testosterone production, infertility, less facial and body hair, enlarged breast tissue, tall stature with long limbs, and potential learning or behavioral differences.

Usage Examples
  • Noun:
    • Klinefelter's syndrome is one of the most common chromosomal disorders.
    • A diagnosis of Klinefelter's syndrome is confirmed through a genetic test called a karyotype.
    • Early intervention and testosterone therapy can help manage many symptoms of Klinefelter's syndrome.
Advanced Usage
  • "47,XXY": This is the scientific karyotype notation for the chromosomal pattern that defines Klinefelter's syndrome.
    • The genetic basis of Klinefelter's syndrome is the 47,XXY karyotype.
  • "XXY syndrome": An alternative, more direct name for the condition.
    • Support groups for individuals with XXY syndrome provide valuable resources.
Variants and Related Words
  • Klinefelter syndrome (noun): A common variant spelling that omits the possessive 's'.
    • The article discussed the life expectancy of men with Klinefelter syndrome.
  • XXY (noun/adjective): Used as shorthand to refer to the condition or the genetic pattern.
    • He is an XXY individual.
Synonyms
  • 47,XXY syndrome: The formal medical term based on the chromosomal pattern.
  • XXY condition: A descriptive synonym.
Related Terms and Concepts
  • Hypogonadism (noun): A key feature of Klinefelter's syndrome, referring to underactive testes that produce low levels of testosterone.
    • The hypogonadism associated with Klinefelter's syndrome is often treated with hormone replacement.
  • Azoospermia (noun): The absence of sperm in semen, a common consequence of Klinefelter's syndrome leading to infertility.
    • Azoospermia is typical in men with Klinefelter's syndrome.
  • Gynecomastia (noun): The medical term for enlarged breast tissue in males, a possible physical trait.
    • Gynecomastia can be a source of self-consciousness for some men with Klinefelter's syndrome.
Noun
  1. syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male