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Endocrine System Diseases > Gonadal Disorders > Hypogonadism > Klinefelter Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Sex Chromosome Disorders of Sex Development > Klinefelter Syndrome

Preferred term

Klinefelter Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Klinefelter's Syndrome
  • Klinefelters Syndrome
  • Syndrome, Klinefelter's
  • Syndromes, XXY
  • Syndrome, XXY
  • XXY Syndrome
  • XXY Syndromes

Note

  • index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS

Scope note

  • 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.).

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URI

http://www.yso.fi/onto/mesh/D007713

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