Klinefelter Syndrome

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.).

Also Known As:

Klinefelter's Syndrome; Syndrome, Klinefelter's; 48,XXYY Syndrome; 49,XXXXY Syndrome; Klinefelter Syndrome, Variants; XXXY Males; XXY Syndrome; XXY Trisomy; Xxyy Syndrome; Klinefelter Syndromes; Klinefelter Syndromes, Variants; Klinefelters Syndrome; Syndrome, Klinefelter; Syndrome, Variants Klinefelter; Syndrome, XXY; Syndrome, Xxyy; Syndromes, Klinefelter; Syndromes, Variants Klinefelter; Syndromes, XXY; Syndromes, Xxyy; Trisomies, XXY; Trisomy, XXY; XXXY Male; XXY Syndromes; XXY Trisomies; Xxyy Syndromes

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Sex Chromosome Disorders of Sex Development: 3
      - Klinefelter Syndrome: 783
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        Sex Chromosome Disorders of Sex Development: 3
        Klinefelter Syndrome: 783
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Sex Chromosome Disorders of Sex Development: 3
        Klinefelter Syndrome: 783
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Sex Chromosome Disorders of Sex Development: 3
        Klinefelter Syndrome: 783
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Sex Chromosome Disorders of Sex Development: 3
        Klinefelter Syndrome: 783
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Sex Chromosome Disorders of Sex Development: 3
        Klinefelter Syndrome: 783
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Hypogonadism: 6201
    - Klinefelter Syndrome: 783
  - Disorders of Sex Development: 730
    - Sex Chromosome Disorders of Sex Development: 3
      - Klinefelter Syndrome: 783

B Skolnick Selected Research

B Skolnick Research Topics

Disease

Therapy/Procedure