DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Turner Syndrome

MODERATE

A chromosomal disorder affecting females with complete or partial absence of one X chromosome (45,X or mosaic). Short stature, ovarian dysgenesis, cardiovascular abnormalities (coarctation, bicuspid aortic valve), and specific learning disabilities.

Global Affected

1.0M

Countries

17

Symptoms

Short stature
Webbed neck
Ovarian dysgenesis
Cardiovascular abnormalities
Lymphedema (infancy)
Kidney abnormalities
Learning disabilities
Hearing loss

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 hormone replacement and cardiac surveillance. Normal lifespan. Fertility possible with IVF using donor eggs. Regular monitoring for cardiovascular and renal issues essential.

Prevention

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

Research Status

Growth hormone therapy for height. Estrogen replacement at puberty. Cardiac surveillance. Fertility options (IVF with donor eggs). Regular health screening. Multidisciplinary care essential.

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.