DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Klinefelter Syndrome

LOW SEVERITY

A chromosomal disorder affecting males with an extra X chromosome (47,XXY). Characterized by hypogonadism, tall stature, infertility, and variable cognitive/behavioral features. Most common sex chromosome disorder in males.

Global Affected

1.5M

Countries

17

Symptoms

Tall stature
Small testes
Infertility
Low testosterone
Gynecomastia
Reduced muscle mass
Learning disabilities
Language delays
Social difficulties

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with testosterone replacement. Normal lifespan. Fertility possible with assisted reproductive technology. Breast cancer risk slightly elevated. Learning disabilities manageable.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Testosterone replacement therapy from puberty. Fertility options (TESE/ICSI may work in mosaic cases). Educational support. Speech therapy. Regular health screening. Most men lead normal lives with treatment.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoRussiaSwedenNorwayFinlandNetherlandsDenmark

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.